Relevant bibliographies by topics / Developmental and epileptic encephalopathy

Academic literature on the topic 'Developmental and epileptic encephalopathy'

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Published: 10 December 2022
Last updated: 9 March 2023

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Journal articles on the topic "Developmental and epileptic encephalopathy"

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Scheffer, Ingrid E., and Jianxiang Liao. "Deciphering the concepts behind “Epileptic encephalopathy” and “Developmental and epileptic encephalopathy”." European Journal of Paediatric Neurology 24 (January 2020): 11–14. http://dx.doi.org/10.1016/j.ejpn.2019.12.023.

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Berg, Anne T., Sonal Mahida, and Annapurna Poduri. "KCNQ2 ‐DEE: developmental or epileptic encephalopathy?" Annals of Clinical and Translational Neurology 8, no. 3 (February 22, 2021): 666–76. http://dx.doi.org/10.1002/acn3.51316.

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Wild, Brittani, and Stephen Lewis Nelson. "STXBP1-Related Developmental and Epileptic Encephalopathy." Pediatric Neurology Briefs 33 (December 31, 2019): 6. http://dx.doi.org/10.15844/pedneurbriefs-33-6.

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Gardella, Elena, Carla Marini, Marina Trivisano, Mark P. Fitzgerald, Michael Alber, Katherine B. Howell, Francesca Darra, et al. "The phenotype of SCN8A developmental and epileptic encephalopathy." Neurology 91, no. 12 (August 31, 2018): e1112-e1124. http://dx.doi.org/10.1212/wnl.0000000000006199.

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ObjectiveTo delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558).MethodsTwenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment.ResultsSixteen of 22 patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age of 4 months, followed by developmental slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, and severe gastrointestinal symptoms (15/22), worsening during early childhood and plateauing at age 5 to 9 years. Death occurred in 4 children, following extreme neurologic deterioration, at 22 months to 5.5 years. Nonconvulsive status epilepticus recurred in 14 of 22 patients. The most effective antiepileptic drugs were oxcarbazepine, carbamazepine, phenytoin, and benzodiazepines. EEG showed background deterioration, epileptiform abnormalities with a temporo-occipital predominance, and posterior delta/beta activity correlating with visual impairment. Video-EEG documented focal seizures (FS) (22/22), spasm-like episodes (8/22), cortical myoclonus (8/22), and myoclonic absences (1/22). FS typically clustered and were prolonged (<20 minutes) with (1) cyanosis, hypomotor, and vegetative semiology, sometimes unnoticed, followed by (2) tonic-vibratory and (3) (hemi)-clonic manifestations ± evolution to a bilateral tonic-clonic seizure. FS had posterior-temporal/occipital onset, slowly spreading and sometimes migrating between hemispheres. Brain MRI showed progressive parenchymal atrophy and restriction of the optic radiations.Conclusions:SCN8A developmental and epileptic encephalopathy has strikingly consistent electroclinical features, suggesting a global progressive brain dysfunction primarily affecting the temporo-occipital regions. Both uncontrolled epilepsy and developmental compromise contribute to the profound impairment (increasing risk of death) during early childhood, but stabilization occurs in late childhood.
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Hung, Kun-Long, Jyh-Feng Lu, Da-Jyun Su, Su-Jin Hsu, and Lee-Chin Wang. "Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy." Children 9, no. 8 (July 23, 2022): 1105. http://dx.doi.org/10.3390/children9081105.

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Tubulin proteins play a role in the cortical development. Mutations in the tubulin genes affect patients with brain malformations. The present report describes two cases of developmental and epileptic encephalopathy (DEE) due to tubulinopathy. Case 1, a 23-year-old boy, was found to have a brain malformation with moderate ventriculomegaly prenatally. Hypotonia was noted at birth. Seizures were noted on the 1st day with multifocal discharges on the EEGs, which became intractable to many anticonvulsants. Brain MRI showed marked dilated ventricles and pachy/polymicrogyri. He became a victim of DEE. A de novo mutation in TUBB2B was proven through next-generation sequencing (NGS). Case 2, a mature male baby, began to have myoclonic jerks of his limbs 4 h after birth. EEG showed focal sharp waves from central and temporal regions. Brain MRI showed lissencephaly, type I. The seizures were refractory initially. A de novo mutation in TUBA1A was proven at the 6th week through NGS. He showed the picture of DEE at 1 year and 2 months of age. The clinical features of the tubulinopathies include motor delay, intellectual disabilities, epilepsy, and other deficits. Our cases demonstrated the severe form of tubulinopathy due to major tubulin gene mutations. NGS makes the early identification of genetic etiology possible for clinical evaluation.
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Lopez-Santiago, Luis, and Lori L. Isom. "Dravet Syndrome: A Developmental and Epileptic Encephalopathy." Epilepsy Currents 19, no. 1 (January 2019): 51–53. http://dx.doi.org/10.1177/1535759718822038.

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Bartolini, Emanuele. "Inherited Developmental and Epileptic Encephalopathies." Neurology International 13, no. 4 (November 3, 2021): 555–68. http://dx.doi.org/10.3390/neurolint13040055.

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Epileptic encephalopathies often have a genetic etiology. The epileptic activity itself exerts a direct detrimental effect on neurodevelopment, which may add to the cognitive impairment induced by the underlying mutation (“developmental and epileptic encephalopathy”). The focus of this review is on inherited syndromes. The phenotypes of genetic disorders affecting ion channels, metabolic signalling, membrane trafficking and exocytosis, cell adhesion, cell growth and proliferation are discussed. Red flags suggesting family of genes or even specific genes are highlighted. The knowledge of the phenotypical spectrum can indeed prompt the clinician to suspect specific etiologies, expediting the diagnosis.
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Stawicka, Elżbieta, Paulina Górka-Skoczylas, and Dorota Hoffman-Zacharska. "A new look at the clinical and molecular characteristics of SCN1A-related developmental and epileptic encephalopathies." Aktualności Neurologiczne 22, no. 2 (December 7, 2022): 93–98. http://dx.doi.org/10.15557/an.2022.0011.

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SCN1A-related diseases are a heterogeneous group of disorders with an expanding spectrum of phenotypes. Until recently, mutations in this gene were associated with epileptic syndromes and epileptic and developmental encephalopathy – Dravet syndrome, which was contrasted with a new group of early-onset syndromes, non-Dravet developmental and epileptic encephalopathies (DEEs; OMIM: PS308350). The aim of this paper is to review published data on the phenotypic variability of SCN1A-related developmental and epileptic encephalopathies, particularly non-Dravet syndromes. These are disorders with very early onset, polymorphic, drug-resistant epileptic seizures, impaired psychomotor development and intellectual disability, as well as the presence of additional symptoms such as arthrogryposis, osteopenia, and hyperkinetic movement disorders. Unlike Dravet syndrome, epileptic seizures begin in the first few months of life and may have an epileptic spasm or tonic morphology. The ability to quickly recognise the non-Dravet developmental and epileptic encephalopathy is of significant clinical value, because the identification of pathogenic SCN1A variants and their functional evaluation have an impact on both treatment and prognosis. Studies on the aetiology of non-Dravet developmental and epileptic encephalopathies have shown that pathogenic variants of the gain of function (GOF) type are identified in these patients. Therefore, it is possible to treat such patients with medicaments from the group of sodium channel blockers, which were contraindicated in cases of loss of function (LOF) variants, occurring in Dravet syndrome.
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Takai, Akari, Masamitsu Yamaguchi, Hideki Yoshida, and Tomohiro Chiyonobu. "Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster." International Journal of Molecular Sciences 21, no. 17 (September 3, 2020): 6442. http://dx.doi.org/10.3390/ijms21176442.

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Developmental and epileptic encephalopathies (DEEs) are the spectrum of severe epilepsies characterized by early-onset, refractory seizures occurring in the context of developmental regression or plateauing. Early infantile epileptic encephalopathy (EIEE) is one of the earliest forms of DEE, manifesting as frequent epileptic spasms and characteristic electroencephalogram findings in early infancy. In recent years, next-generation sequencing approaches have identified a number of monogenic determinants underlying DEE. In the case of EIEE, 85 genes have been registered in Online Mendelian Inheritance in Man as causative genes. Model organisms are indispensable tools for understanding the in vivo roles of the newly identified causative genes. In this review, we first present an overview of epilepsy and its genetic etiology, especially focusing on EIEE and then briefly summarize epilepsy research using animal and patient-derived induced pluripotent stem cell (iPSC) models. The Drosophila model, which is characterized by easy gene manipulation, a short generation time, low cost and fewer ethical restrictions when designing experiments, is optimal for understanding the genetics of DEE. We therefore highlight studies with Drosophila models for EIEE and discuss the future development of their practical use.
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Johannesen, Katrine M., Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P. W. Rouhl, Margot Reijnders, Sandra Whalen, et al. "PURA-Related Developmental and Epileptic Encephalopathy." Neurology Genetics 7, no. 6 (November 15, 2021): e613. http://dx.doi.org/10.1212/nxg.0000000000000613.

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Background and ObjectivesPurine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual disability, hypotonia, epilepsy, and dysmorphic features was suggested. The aim of this study was to define and expand the phenotypic spectrum of PURA syndrome by collecting data, including EEG, from a large cohort of affected patients.MethodsData on unpublished and published cases were collected through the PURA Syndrome Foundation and the literature. Data on clinical, genetic, neuroimaging, and neurophysiologic features were obtained.ResultsA cohort of 142 patients was included. Characteristics of the PURA syndrome included neonatal hypotonia, feeding difficulties, and respiratory distress. Sixty percent of the patients developed epilepsy with myoclonic, generalized tonic-clonic, focal seizures, and/or epileptic spasms. EEG showed generalized, multifocal, or focal epileptic abnormalities. Lennox-Gastaut was the most common epilepsy syndrome. Drug refractoriness was common: 33.3% achieved seizure freedom. We found 97 pathogenic variants in PURA without any clear genotype-phenotype associations.DiscussionThe PURA syndrome presents with a developmental and epileptic encephalopathy with characteristics recognizable from neonatal age, which should prompt genetic screening. Sixty percent have drug-resistant epilepsy with focal or generalized seizures. We collected more than 90 pathogenic variants without observing overt genotype-phenotype associations.
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Dissertations / Theses on the topic "Developmental and epileptic encephalopathy"

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Sprissler, Ryan S., Jacy L. Wagnon, Rosie K. Bunton-Stasyshyn, Miriam H. Meisler, and Michael F. Hammer. "Altered gene expression profile in a mouse model of SCN8A encephalopathy." ACADEMIC PRESS INC ELSEVIER SCIENCE, 2017. http://hdl.handle.net/10150/622816.

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12 month embargo; Available online 9 November 2016
SCN8A encephalopathy is a severe, early-onset epilepsy disorder resulting from de novo gain-of-function mutations in the voltage-gated sodium channel Na(v)1.6. To identify the effects of this disorder on mRNA expression, RNA-seq was performed on brain tissue from a knock-in mouse expressing the patient mutation p.Asn1768Asp (N1768D). RNA was isolated from forebrain, cerebellum, and brainstem both before and after seizure onset, and from age-matched wildtype littermates. Altered transcript profiles were observed only in forebrain and only after seizures. The abundance of 50 transcripts increased more than 3-fold and 15 transcripts decreased more than 3 fold after seizures. The elevated transcripts included two anti-convulsant neuropeptides and more than a dozen genes involved in reactive astrocytosis and response to neuronal damage. There was no change in the level of transcripts encoding other voltage-gated sodium, potassium or calcium channels. Reactive astrocytosis was observed in the hippocampus of mutant mice after seizures. There is considerable overlap between the genes affected in this genetic model of epilepsy and those altered by chemically induced seizures, traumatic brain injury, ischemia, and inflammation. The data support the view that gain-of-function mutations of SCN8A lead to pathogenic alterations in brain function contributing to encephalopathy.
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Tona, Risa. "The Phenotypic Landscape of a Tbc1d24 Mutant Mouse Includes Convulsive Seizures Resembling Human Early Infantile Epileptic Encephalopathy." Kyoto University, 2019. http://hdl.handle.net/2433/242396.

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TRIVISANO, MARINA. "Characterization of a new epileptic syndrome due to PCDH19 gene mutation." Doctoral thesis, Università di Foggia, 2017. http://hdl.handle.net/11369/363290.

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Razionale e Obiettivi: Lo spettro clinico dell’epilessia dovuta a mutazione del gene PCDH19 è molto variabile, essendo riportati sia pazienti con epilessia farmacoresistente, disabilità intellettuale (ID) e disturbo dello spettro autistico (ASD) sia pazienti con buon controllo delle crisi e normale sviluppo cognitivo. Scopo di questo studio analizzare un’ampia popolazione di pazienti con mutazione PCDH19 al fine di definire il fenotipo elettro-clinico, la correlazione genotipo-fenotipo, definire l’outcome a lungo termine e identificare i fattori prognostici, e gli aspetti clinici importanti per la diagnosi differenziale con la sindrome di Dravet (DS). La tramissione x-linked, ha permesso di ipotizzare una differente espressione genica dei geni che codificano per gli enzimi AKR1C1-3, coinvolti nel metabolismo degli steroidi, con conseguente riduzione dei livelli plasmatici di allopregnanolone e questo studio si propone si verificare tale ipotesi mediante misurazione dei neurosteroidi nelle pazienticon mutazione PCDH19. Metodi: Sono stati retrospettivamente collezionati i dati genetici, clinici ed EEG di 61 pazienti con epilessia dovuta a mutazione del gene PCDH19, provenienti da 15 centri italiani. I pazienti sono stati divisi in due gruppi a seconda dell’outcome e sono state analizzate le seguenti variabili: mutazione, età di esordio, età al follow-up, tipo di crisi, occorrenza di stato epilettico, anomalie EEG. La ROC analisi è stata utilizzata per verificare la presenza di una eventuale età di riduzione della frequenza delle crisi. 15 pazienti con mutazione PCDH19 sono stati confrontati con 19 pazienti con DS Fisher's exact test o Student's t-test. Per verificare la riduzione di allopregnanolone, è stato condotto uno studio caso-controllo prospettico (12 pazienti-15 controlli). L’analisi dei neurosteroidi è stata effettuata sia in condizioni basali che dopo stimolo con ACTH, mediante spettroscopia. Risultati: All’ultimo follow-up (mediana 12 anni; range 1.9-42.1), 13 pazienti (21,3%) avevano crisi settimanali, mensili, 78,8% crisi annuali, e 12 pazienti (19.7%) erano seizure-free da almeno 2 anni. La curva ROC ha mostrato una riduzione delle crisi dopo 10.5 anni (sensibilità 81.0%; specificità 70.0%). 36 pazienti avevano ID, 31 pazienti ASD. L’ètà d’esordio dell’epilessia più precoce è risultata l’unico fattore predittivo di ID (p=0.05) e ASD (p<0.014). Al contrario non sono stati identificati fattori predittivi dell’outcome dell’epilessia. L’età di esordio più precoce è risultata essere un fattore clinico utile per la diagnosi differenziale con la DS (5.0+2.1 vs 11.2+7.0 mesi; p<0.05) così come la latenza tra la prima e la seconda crisi (10.1+13.6 vs 2.2+2.1 mesi; p<0.05). Dall’analisi dei livelli plasmatici dei neurosteroidi è risultata una ridotta produzione nei pazienti rispetto ai controlli, confermata anche dopo il test con ACTH. Conclusioni: Questo studio ha premesso di identificare l’età di esodio precoce quale indicatore prognostico di un outcome peggiore caratterizzato da epilessia farmacoresistente e disabilità cognitiva. La riduzione della frequenza delle crisi con la pubertà ben correla con l’ipotesi della down-regulation dei neurosteroidi che è stata confermata con l’analisi dei livelli plasmatici. Questo risultato apre a nuove possibilità terapeutiche, essendo i neurosteroidi e in particolare l’allopregnanolone un modulatore allosterico del recettore GABA-A e quindi modulatore dell’eccitabilità neuronale.
Objective: PCDH19-related epilepsy is an epileptic syndrome, arising within the first three years of life and characterized by clustered and fever-induced seizures. In most of cases it is associated with Intellectual Disability (ID) and autistic features. Aim of this study is to analyze a large Italian population with PCDH19-related epilepsy in order to better define the epileptic phenotype, identify genotype-phenotype correlation, predicting factors for outcome, and markers for differential diagnosis with Dravet Syndrome (DS). The unusual, gender reversed X-chromosome inheritance of PCDH19-FE led also to speculate that genes with different expression between the two sexes may play a role in the pathogenesis and that AKR1C1-3 genes, could be dysregulated, thus resulting in allopegnanolone reduced blood levels. Methods: We retrospectively collected genetic, clinical and EEG data of 61 patients affected by PCDH19-related Epilepsy, coming from 15 Italian hospitals. We stratified patients into two groups according the outcome. We analysed the following variables: mutation type, age at onset, age at study, seizure type, occurrence of status epilepticus, EEG abnormalities, cognitive and behavioural disorders. ROC curve analysis was performed in order to discriminate the age at which seizures could decrease in frequency. A group of 15 patients with PCDH19-related epilepsy were compared with 19 patients with DS. Comparisons were performed with Fisher's exact test or Student's t-test. In order to ascertain allopregnanolone deficiency, we performed a prospective case-control study. We enrolled 12 patients affected by PCDH19-related epilepsy and 15 controls, age-and sex-matched. Controls were recruited among subjects evaluated for praecox puberty or hyperandrogenism. In both groups blood samples were taken at basal (T0) and 60 min after (ACTH) administration (T1). Quantitative analysis of neuroactive steroids in serum was performed by liquid chromatography-electrospray tandem mass spectrometry. Results: At last follow-up (median 12 years; range 1.9-42.1), 13 patients (21.3%) had monthlyweekly seizures, 78.7% annual seizures/clusters or less frequent. Twelve patients (19.7%) were seizure-free since > 2 years. ROC analysis showed a significant decreasing of seizure frequency after the age of 10.5 years (sensitivity 81.0%; specificity 70.0%). Thirty-six patients (59.0%) had ID and behavioral disturbances. ID was moderate-severe in almost half of them. Autistic spectrum disorder was present in 31 patients. An earlier age at epilepsy onset resulted the only predictor factor for ID (p=0.05) and autistic spectrum disorder (p<0.014). Conversely, age at onset was not a predictor factor for seizure outcome (p<0.214). Epilepsy onset was earlier in DS (5.0+2.1 vs 11.2+7.0 months; p<0.05). The second seizure/cluster occurred after a longer latency in PCDH19- related epilepsy rather than in DS (10.1+13.6 vs 2.2+2.1 months; p<0.05). All neuroactive steroids resulted down produced in patients with PCDH19-related epilepsy rather than controls and this data was confirmed after ACTH stimulus. Conclusions: We found that an earlier age at epilepsy onset is linked with a significant risk for ID and autistic spectrum disorder. The decreasing of seizure frequency after the age of 10.5 years supports the hypothesis of a down-regulation of neurosteroid-metabolizing enzymes and allopregnanolone deficiency in PCDH19-related epilepsy. We also documented a down regulation of all steroidogenesis in PCDH19-related epilepsy. Particularly we found allopregnanolone and pregnenolone sulfate deficiency. Allopregnanolone is a GABA-A receptor modulator influencing the neuronal excitability, thus representing a realistic therapeutic target for PCDH19-related epilepsy. We failed to identify any genotype-phenotype correlation considering the site and type of PCDH19 mutations. We were able to find out some distinctive features, which could address the diagnosis towards DS or PCDH19-related epilepsy, since first manifestation. These considerations suggest to definitively considering PCDH19 gene as cause of a proper epileptic phenotype.
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Komulainen-Ebrahim, J. (Jonna). "Genetic aetiologies and phenotypic variations of childhood-onset epileptic encephalopathies and movement disorders." Doctoral thesis, Oulun yliopisto, 2019. http://urn.fi/urn:isbn:9789526222356.

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Abstract Novel genetic aetiologies for epileptic encephalopathies and movement disorders have been discovered by using next-generation sequencing methods. The phenotypic and genotypic variability in these conditions is very wide. The aim of this study was to discover novel genetic causes and phenotypes of childhood-onset drug-resistant epilepsy and epileptic or developmental encephalopathies that occur separately or together with movement disorders, and familial movement disorders. Furthermore, the use of whole-exome sequencing (WES) as a diagnostic tool in clinical practice was evaluated. Altogether, 12 children with undefined aetiology, who fulfilled the inclusion criteria, were included in the study. GABRG2 gene was identified as a genetic cause of epileptic encephalopathies. Novel GABRG2-associated phenotypes included progressive neurodegeneration, epilepsy in infancy with migrating focal seizures, and autism spectrum disorder. New pathogenic variants, GABRG2 p.P282T and p.S306F, were discovered. The pathogenic NACC1 variant caused focal epilepsy, developmental disability, bilateral cataracts, and dysautonomia. The novel phenotype associated with the NACC1 p.R298W variant included hyperkinetic movement disorder. SAMD9L was found to be the genetic cause for the familial movement disorder. The phenotype associated with the novel SAMD9L p.I891T variant was very variable. Neuroradiological findings included cerebellar atrophy and periventricular white matter changes. After publication of these results, SAMD9L was reported to be one of the most common genetic aetiologies of childhood bone marrow failure and myelodysplastic syndrome. The pathogenic homozygous MTR variant was found to cause early-onset epileptic encephalopathy that occurred together with movement disorder and haematological disturbances. Drug resistant seizures responded to cofactor and vitamin treatments. Whole-exome sequencing for 10 patients with drug-resistant epilepsy or epileptic or developmental encephalopathy provided a genetic diagnosis for two patients (20%). This study confirmed that, for epileptic encephalopathies and movement disorders in which the genetic causes and phenotypes are heterogeneous and sometimes treatable, WES is a useful tool for diagnostics and in the search for novel aetiologies, which might turn out to be more common than expected
Tiivistelmä Uusien sekvensointimenetelmien käyttöönotto on mahdollistanut epileptisten enkefalopatioiden ja liikehäiriöiden uusien geneettisten syiden löytymisen. Näissä sairausryhmissä geenien ja ilmiasujen vaihtelevuus on suurta. Tutkimuksen tarkoituksena oli löytää uusia geneettisiä syitä ja ilmiasuja lapsuusiällä alkavissa vaikeahoitoisissa epilepsioissa ja epileptisissä tai kehityksellisissä joko itsenäisesti tai yhdessä liikehäiriön kanssa esiintyvissä enkefalopatioissa sekä perheittäin esiintyvissä liikehäiriöissä. Lisäksi selvitettiin eksomisekvensoinnin käyttökelpoisuutta kliinisessä diagnostiikassa näiden potilasryhmien kohdalla. Tutkimukseen osallistui yhteensä 12 sisäänottokriteerit täyttävää lasta, joiden sairauden syy oli jäänyt tuntemattomaksi. GABRG2-geenin mutaatiot aiheuttivat epileptisiä enkefalopatioita, joiden uutena ilmiasuna oli etenevä taudinkuva, johon liittyivät aivojen rappeutuminen, migroiva imeväisiän paikallisalkuinen epilepsia sekä autismikirjon häiriö. Tutkimuksessa löydettiin uusia GABRG2-mutaatioita: p.P282T ja p.S306F. NACC1-geenin mutaatio aiheutti epilepsian, kehitysvammaisuuden, molemminpuolisen kaihin ja autonomisen hermoston toiminnan häiriön. Hyperkineettinen liikehäiriö oli uusi NACC1 p.R298W -mutaatioon liittyvä ilmiasu. SAMD9L-geenin mutaatio aiheutti perheessä esiintyvän liikehäiriön. Neurologinen ja hematologinen ilmiasu olivat hyvin vaihtelevia. Aivojen kuvantamislöydöksiin sisältyi pikkuaivojen rappeutumista ja valkoisen aivoaineen muutoksia aivokammioiden ympärillä. Näiden tutkimustulosten julkaisemisen jälkeen SAMD9L-geenin mutaatioiden on todettu olevan yksi yleisimmistä perinnöllisistä luuytimen vajaatoiminnan ja myelodysplasian syistä. Homotsygoottinen MTR-geenin mutaatio aiheutti varhain alkaneen epileptisen enkefalopatian, liikehäiriön ja hematologisen häiriön. Kofaktori- ja vitamiini hoidot vähensivät epileptisiä kohtauksia, joihin tavanomainen lääkitys ei tehonnut. Geneettiset syyt ja ilmiasut ovat epileptisissä enkefalopatioissa ja liikehäiriöissä hyvin vaihtelevia, ja osaan on olemassa spesifi hoito. Eksomisekvensointi on käyttökelpoinen diagnostiikan ja uusien geneettisten syiden etsimisen apuna. Tässä tutkimuksessa eksomisekvensoinnin avulla kymmenestä potilaasta kahdelle (20%) saatiin varmistettua geneettinen diagnoosi
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Stipa, Carlotta <1983&gt. "Epileptic and developmental encephalopathies: clinical and genetic study of adult patients attending a tertiary Epilepsy Centre." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2019. http://amsdottorato.unibo.it/9133/1/Stipa_Carlotta_tesi.pdf.

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Objectives: To fully re-evaluate patients with early-onset epilepsy and intellectual disability with neurological, neurophysiological and neuropsychological examination in order to contribute to expanding the phenotypic spectrum of known epileptic encephalopathy (EE)-related genes and to identify novel genetic defects underlying EEs. Methods: We recruited patients with epilepsy and intellectual disability (ID) referring to our Epilepsy Centre. Patients underwent full clinical and neurophysiologic evaluation. When possible they underwent neuroradiologic investigations. Selected cases also underwent genetic analysis. Results: We recruited 200 patients (109 M, 91 F; mean age 36 years old). Mean age at epilepsy onset was 4 years old. The degree of ID was borderline in 4.5% of patients, mild in 25%, moderate in 38% and severe in 32.5%. EEG showed epileptiform abnormalities in 79.5% of patients. One hundred and thirty-one patients out of the 200 recruited (65.5%) did not have an aetiological diagnosis. All the patients underwent full clinical reassessment and when necessary they performed neuroradiologic and genetic investigations as well. We identified 35 patients with a genetic aetiology. In 8 cases a structural brain lesion was observed. In 33 patients, a genetic aetiology was identified. In 2 patients with drug-resistant seizures video-EEG allowed the identification of non-epileptic seizures, and in one patient we discontinued anti-epileptic drugs. In these patients, the aetiological diagnosis was made after 30 years (range 9-60 years) from the disease onset. Conclusions: In a population of 200 adult patients with epilepsy and ID, an aetiological cause was identified in 45 patients after 30 years from the disease onset. Aetiological diagnosis, especially if genetic, has significant positive implications for patients, even if it has been made after years from the beginning of the disease. Benefits include better-focused antiepileptic drug (AED) choice, sparing of further unnecessary investigations and improved knowledge of comorbidities.
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Brough, Jenna Louise. "Using Multiple Sequential Functional Analysis (MSFA) to identify potential developmental pathways of Non-Epileptic Attack Disorder (NEAD)." Thesis, University of Lincoln, 2016. http://eprints.lincoln.ac.uk/23756/.

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Background. Non-epileptic attack disorder (NEAD) is one of the most common differential diagnoses to epilepsy. Due to the impact of misdiagnosis, research has focused on improving differential diagnosis by identifying factors distinguishing the two populations. These factors, though non-specific and common place comprise much of the understanding of the aetiology of NEAD. Theories which adequately explain the processes by which attacks develop and are maintained are lacking. Although it is agreed that psychological processes underpin NEAD, therapeutic approaches targeting specific processes are under developed. In light of the limitations of currently employed structural approaches, a functional approach may improve understanding of possible mechanisms underpinning NEAD development and maintenance. Aim. This study aimed to use Multiple Sequential Functional Analysis to explore whether behavioural principles of learning, applied to detailed life histories, can be used to understand the developmental pathway of non-epileptic attacks. Method. Three adult participants were recruited from outpatient Neurology clinics in the East Midlands, UK. Clinical interviews were conducted using a biographical format to collate detailed information around all aspects of the participant’s histories, current situation, and non-epileptic attacks. To improve the hypotheses made, interview data was triangulated with data from an interview with a relative and a file review. The MSFA was conducted according to the principles of radical behaviourism and applied functional analysis. Data was utilised in the analysis based on the pragmatic truth criterion of functional contextualism. Results. The results are three detailed functional analytic case studies that track the development of non-epileptic attacks for each participant from formative experiences to their current attack experiences. The results demonstrate that functional analytic principles can be used to understand the developmental pathway of NEAD in these three adults. Though the participants had very different experiences and presentations, an across-case analysis identifies that attacks have similar functional values for these people. Issues including avoiding/reducing stress and emotional suppression appear to be important factors in the development and maintenance of the behaviour. Discussion. The findings that non-epileptic attacks hold functional value for this group of people, supports the theorised roles of avoidance and secondary gain in the developmental process. The findings have important implications for future research. A strength of the present methodology is that it identifies subtle differences in the learning histories, which has implications for the development of assessment and treatment approaches for those with NEAD.
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Lindström, Katarina. "Long-term neurodevelopmental outcome after moderate neonatal encephalopathy and after post-term birth : two population-based studies /." Stockholm, 2006. http://diss.kib.ki.se/2006/91-7140-702-2/.

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Kuramoto, Takashi. "Tremor and zitter, cauative mutant genes for epilepsy with spongiform encephalopathy in spontaneously epileptic rat (SER), are tightly linked to synaptobrevin-2 and prion protein genes, respectively." Kyoto University, 1998. http://hdl.handle.net/2433/156989.

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本文データは平成22年度国立国会図書館の学位論文(博士)のデジタル化実施により作成された画像ファイルを基にpdf変換したものである
Kyoto University (京都大学)
0048
新制・課程博士
博士(医学)
甲第7060号
医博第1956号
新制||医||681(附属図書館)
UT51-98-C173
京都大学大学院医学研究科病理系専攻
(主査)教授 川口 三郎, 教授 柴崎 浩, 教授 芹川 忠夫
学位規則第4条第1項該当
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Kuchenbuch, Mathieu. "Modélisation computationelle de l'épilepsie avec crises focales migrantes du nourrisson." Thesis, Rennes 1, 2019. http://www.theses.fr/2019REN1B062.

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L’épilepsie avec crises focales migrantes du nourrisson se caractérise par l’apparition de crises focales avant 6 mois qui s’intensifient jusqu’à une phase d’orage où il y a des crises migrantes. Les mutations gain-defonction du gène KCNT1 sont les principales mutations responsables de cette épilepsie. Nous nous sommes intéressés à une cohorte de patients ayant une mutation du gène KCNT1 et cette épilepsie afin de mieux comprendre ce syndrome en vue de le modéliser. D’abord, nous avons précisé la clinique de ces patients, notamment le mauvais devenir à long terme, la forte mortalité, la microcéphalie et la présence de symptômes extra-neurologiques. Puis, nous avons déterminé, via l’étude des EEG ictaux, que les crises migrantes n’étaient pas chaotiques mais correspondaient plutôt à un type de propagation et nous avons identifié des marqueurs spécifiques de cette épilepsie. Ensuite, nous avons montré que la majorité des mutations KCNT1 semblaient se regrouper dans des "points chauds" et qu’il n’y avait pas de corrélation génotype-phénotype stricte. Finalement, nous avons modélisé cette épilepsie à l’échelle microscopique et mésoscopique. Les résultats préliminaires montraient une baisse de l’excitation, une chute de l’inhibition et l’implication du GABA dépolarisant. Nous discutons ensuite des différents aspects de nos travaux à la lumière de la littérature et décrivons les perspectives ouvertes par cette thèse d’un point de vue fondamental, clinique et physiologique
Epilepsy in infancy with migrating focal seizures is characterized by focal seizures beginning before 6 months that intensify to a stormy phase where so-called migrating focal seizures appear. The gain-of-function mutations of the KCNT1 gene are the main causes of this epilepsy. We focused on a cohort of patients with a KCNT1 mutations and this epilepsy to better understand this syndrome in order to model it. First, we specified the clinic for these patients, including long-term poor outcomes, high mortality, microcephaly and the presence of extra-neurological symptoms. Then, we determined, through the study of ictal EEGs, that migrating seizures were not chaotic but rather corresponded to a type of propagation and we have identified specific markers of this epilepsy. Then, we showed that the majority of KCNT1 mutations appeared to cluster in "hot spots" and that there was no strict genotypephenotype correlation. Finally, we modelled this epilepsy at microscopic and mesoscopic levels. Preliminary results showed a decrease in excitation, a fall in inhibition and involvement of depolarizing GABA. We then discuss the different aspects of our work in the light of the literature and describe the perspectives opened by this thesis from a fundamental, clinical and physiological point of views
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Huynh, Minh Tuan. "Apport de l'analyse chromosomique sur différents microréseaux d'ADN dans l'identification de nouvelles mutations et la caractérisation de gènes candidats impliqués dans la déficience intellectuelle." Thesis, Université de Lorraine, 2013. http://www.theses.fr/2013LORR0129/document.

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Anomalies de structure du génome et Déficience Intellectuelle : Recherche des gènes candidats de Déficience intellectuelle en utilisant l'analyse chromosomique sur microréseau d'ADN pangénomique 180K et l'analyse chromosomique sur microréseau d'ADN de haute résolution 1M ciblée des gènes candidats de Déficience intellectuelle. L'analyse chromosomique sur microréseau d'ADN (ACM) de haute résolution est une innovation technologique puissante afin de détecter les aberrations chromosomiques concernant les variations du nombre de copies. En utilisant l'ACM 180K, l'ACM 1M et la PCR quantitative, nous avons identifié les 5 variations du nombre de copies (CNV) intragéniques pathogènes de novo impliquant les gènes : RUNX1T1, KIAA1468, FABP7, ZEB2 (syndrome de Mowat-Wilson) et ANKRD11 (syndrome de KBG). Les 5 patients ayant une DI et une dysmorphie faciale. L'ACM 180K a révélé une délétion d'une taille de 92 kb emportant le gène KIAA1468 candidat pour le syndrome de West chez un enfant de 3 ans présentant une DI sévère et une encéphalopathie épileptique infantile précoce. Le criblage des mutations du gène KIAA1468 a été réalisé chez 35 patients atteints de syndrome de West. Un variant intronique c.2761-7 T>C et un variant faux-sens hérité de la mère c.3547 G>A avec signification clinque inconnue ont été identifiés. En utilisant des approches par l'ACM 1M de haute résolution chez 45 patients atteints de DI idiopathique modérée à sévère, un seul CNV causal a été identifié, une délétion intragénique d'une taille de 28.37 kb du gène ZEB2. Notre étude confirme une fréquence très faible des délétions/duplications intragéniques avec la détection d'une seule aberration chromosomique (1/45). En conclusion, si la fréquence des mutations ponctuelles est élevée, nous avons également souligné l'application de la technique de séquençage à haut débit avec un rendement diagnostique jusqu'à 45%-55% des cas de DI sévère idiopathique chez lesquels aucun CNV n'a été détecté sur ACM
Chromosomal structural abnormalities and Intellectual Disability : In search of intellectual disability candidate genes by using pangenomic comparative genomic hybridization 180 K and high resolution comparative genomic hybridization 1M targeting intellectual disability candidate gene.High resolution microarray-based comparative genomic hybridization (a-CGH) has been a powerful technical innovation in order to detect submicroscopic chromosomal aberrations related to copy number variations. By using a-CGH 180K, 1M high resolution a-CGH and quantitative PCR, we have identified 5 pathogenic intragenic copy number variations (CNVs) de novo : RUNX1T1, KIAA1468, FABP7, ZEB2 (Mowat-Wilson syndrome) and ANKRD11 (KBG syndrome). All five patients had intellectual disability (ID) and facial dysmorphism. Interestingly, a-CGH 180K has revealed a 92 kb deletion of a candidate gene KIAA1468 for West syndrome in a 3 year-old boy with severe ID and early infantile epileptic encephalopathy. Mutational screening for candidate gene KIAA1468 was performed in 35 patients with West syndrome. An intronic variant c.2761-7 T>C and a non synonymous maternally inherited variant c.3547 G>A with unknown clinical significance were identified. By using 1M high-resolution a-CGH approach in 45 patients presenting moderate to severe idiopathic ID, only one causal CNV was identified, a 28.37 kb intragenic ZEB2 deletion. Our study has confirmed the low frequency of intragenic deletion/duplication with the detection of only one chromosomal aberration (1/45). In conclusion, providing that the high frequency of intragenic point mutation, we also stressed the application of next-generation sequencing technology with 45-55% diagnostic yield in patients with idiopathic severe ID in case of no apparent CNV(s) on high-resolution a-CGH
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Books on the topic "Developmental and epileptic encephalopathy"

1

Dugger, Sarah Anne. Evaluation of a precision medicine approach for hnRNP U-related developmental epileptic encephalopathy using a mouse model of disease. [New York, N.Y.?]: [publisher not identified], 2020.

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Jan, Gillis, ed. Oakdale: The Lapeer State Home. [United States]: Arcadia Publishing, 2014.

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Sang-in, Chŏn, ed. Hanʼguk hyŏndaesa: Chinsil kwa haesŏk. Kyŏnggi-do Pʻaju-si: Nanam Chʻulpʻan, 2005.

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Nita, Dragos A., Miguel A. Cortez, Jose Luis Perez Velazquez, and O. Carter Snead. Biological Bases of Symptomatic Generalized Epilepsies in Children. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0040.

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Symptomatic generalized epilepsies represent a group of challenging epilepsy syndromes, most often seen in children, which share the hallmark of a triad encompassing multiple seizure types, electroencephalographical (EEG) evidence of diffuse brain involvement, and dysfunction in the intellectual domain (global developmental delay or mental retardation). SGEs include the early myoclonic encephalopathy, early infantile epileptic encephalopathy (Ohtahara syndrome), West syndrome, epilepsy with myoclonic-astatic seizures, epilepsy with myoclonic absence, Lennox-Gastaut syndrome, and the progressive myoclonic epilepsies. SGEs may arise from various genetic, developmental, or acquired brain pathologies and also can be associated with other cerebral or systemic defects and thus being part of a broader epilepsy syndrome phenotype. SGEs are associated with significant mortality and morbidity and most patients with SGE grow up to have intractable epilepsy, mental retardation, and depend on parents and institutions for the activities of the daily living. The mechanisms of SGE are numerous and heterogeneous and the EEG findings usually reflect the age-related changes as the brain matures.
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Epilepsy, infantile spasms, and developmental encephalopathy. Amsterdam: Academic, 2002.

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Schwartzkroin, Philip A., and Jong M. Rho. Epilepsy, Infantile Spasms, and Developmental Encephalopathy. Elsevier Science & Technology Books, 2002.

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(Foreword), Jean Aicardi, Thierry Deonna (Editor), and Eliane Roulet-Perez (Editor), eds. Cognitive and Behavioural Disorders of Epileptic Origin in Children [Clinics in Developmental Medicine No. 168]. MacKeith Press, 2005.

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Madge, Nicola, Millar David, Euan Ross, and Judith Diamond. The National Childhood Encephalopathy Study: A 10-Year Follow Up (Developmental Medicine and Child Neurology). Cambridge University Press, 1993.

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Pollandt, Sebastian, and Lori Shutter. Antiseizure agents in critical illness. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199600830.003.0045.

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Seizures are a common problem in intensive care units (ICU) and the advent of continuous electroencephalography is demonstrating that the incidence of seizures is still underestimated. Many patients considered encephalopathic from any cause are now found to be in non-convulsive status epilepticus. While the significance of non-convulsive seizures remains unclear, there is little disagreement that these seizures should be treated with antiseizure agents and prevention of any type of seizure is a reasonable therapeutic goal. Many antiseizure agents have been studied in ICU populations and extensive experience exists with drugs such as phenytoin, valproate, or pentobarbital. Since the previous edition of this textbook, several new antiseizure agents have been introduced. Levetiracetam, topiramate, and lacosamide have been established as reasonable pharmacologic options, in particular for treatment of status epilepticus. Patients with seizures in the ICU often present with challenging clinical scenarios, which influence the choice of antiseizure agents. For example, reduced liver or renal function, especially if needing continuous renal replacement therapy or intermittent haemodialysis, has an impact on drug level variability and susceptibility to seizure development. ICU patients will typically require a multitude of pharmacological agents for their specific clinical situation and drug–drug interactions must be considered. Additionally, many medications used in ICUs are associated with seizures, in particular, certain antibiotics. Overall, the development of new drugs and better monitoring methods will undoubtedly improve our ability to control seizures in ICU patients, but currently no treatment has been shown to be universally effective for challenges, such as refractory status epilepticus.
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Gillis, Jan, and Laura Fromwiller. Oakdale: The Lapeer State Home. Arcadia Publishing, 2014.

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Book chapters on the topic "Developmental and epileptic encephalopathy"

1

Friede, Reinhard L. "Kernicterus (Bilirubin Encephalopathy)." In Developmental Neuropathology, 115–24. Berlin, Heidelberg: Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-642-73697-1_9.

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Friede, Reinhard L. "Porencephaly, Hydranencephaly, Multicystic Encephalopathy." In Developmental Neuropathology, 28–43. Berlin, Heidelberg: Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-642-73697-1_3.

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Starnes, Keith, and Raj D. Sheth. "Epileptic Encephalopaties and Developmental Disorders." In Epilepsy Case Studies, 41–46. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-59078-9_8.

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Sogawa, Yoshimi, and Miya Asato. "When It’s Not Just a Febrile Seizure: Epileptic Encephalopathy." In Pediatric Neuropsychiatry, 205–10. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-94998-7_19.

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Striano, Pasquale, and Giuseppe Capovilla. "Epileptic Encephalopathy with Continuous Spike- and- Wave During Sleep." In Atlas of Epilepsies, 913–18. London: Springer London, 2010. http://dx.doi.org/10.1007/978-1-84882-128-6_131.

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Chen, Yaohui, Xiaonan Cui, Runze Zheng, Yuanmeng Feng, Tiejia Jiang, Feng Gao, Danping Wang, and Jiuwen Cao. "Coherence Matrix Based Early Infantile Epileptic Encephalopathy Analysis with ResNet." In Communications in Computer and Information Science, 85–101. Singapore: Springer Nature Singapore, 2023. http://dx.doi.org/10.1007/978-981-99-0617-8_7.

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Van Bogaert, Patrick. "The Epileptic Encephalopathy with Continuous Spike and Waves During Slow-Wave Sleep." In Clinical Child Neurology, 929–40. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-319-43153-6_31.

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Levtova, Alina, Stephane Camuzeaux, Anne-Marie Laberge, Pierre Allard, Catherine Brunel-Guitton, Paola Diadori, Elsa Rossignol, et al. "Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy." In JIMD Reports, 67–75. Berlin, Heidelberg: Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/8904_2015_413.

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Iuso, Arcangela, Bader Alhaddad, Corina Weigel, Urania Kotzaeridou, Elisa Mastantuono, Thomas Schwarzmayr, Elisabeth Graf, et al. "A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy." In JIMD Reports, 1–7. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/8904_2018_115.

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Prasun, Pankaj, Sarah Young, Gajja Salomons, Andrea Werneke, Yong-hui Jiang, Eduard Struys, Mikell Paige, Maria Laura Avantaggiati, and Marie McDonald. "Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria." In JIMD Reports, 111–15. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/8904_2014_378.

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Conference papers on the topic "Developmental and epileptic encephalopathy"

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Polster, T., R. Jamra, H. Sticht, and F. G. W. Woermann. "Pathogenic Variants in SCN2A Are Associated with Severe Developmental and Epileptic Encephalopathy with Bilateral Polymicrogyria and Incomplete Opercularization." In Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1739618.

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Pinto, Icaro França Navarro, Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, Bruno de Mattos Lombardi Badia, Gustavo Carvalho Costa, Carolina Maria Marin, Ana Carolina Souza Jorge, et al. "Oculogyric Crisis in a patient with PURA Syndrome." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.121.

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Context: PURA syndrome is a neurodevelopmental disorder characterized by neonatal hypotonia, delayed psychomotor development, early-onset feeding difficulties and an epileptic encephalopathy. Case Report: A 3-month-old Brazilian boy presented with severe neonatal hypotonia associated with feeding difficulties due to serious dysphagia requiring nasoenteral tube feeding. Excessive drowsiness, poor social interaction and repetitive episodes of involuntary abnormal upward eye movements and ocular version with short duration were also reported by parents. Neurological examination revealed severe axial and upper limb hypotonia, orofacial dyskinetic movements and episodes of abnormal eye movements with upward ocular deviation with less than 30 seconds in duration compatible with oculogyric crisis. It was performed Whole-Exome sequencing and it was identified a new pathogenic variant in PURA gene that establisehd the final diagnosis of PURA Syndrome or Autosomal Dominant Mental Retardation type 31, MDR 31 (OMIM #616158). Conclusions: PURA Syndrome emerges as one of the major differential diagnoses of neonatal hypotonia and in addition, we can consider the early manifestation of oculogyric crisis as a phenotypic expansion of the syndrome, making its diagnosis even more challenging, since epileptic encephalopathies and neurotransmitter deficiency-related diseases present with a similar clinical course.
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Moura, Ludmila Sandy Alves, André Taumaturgo Cavalcanti Arruda, and Mário Luciano de Melo Silva Júnior. "Case Report of Tuberous Sclerosis with early West Syndrome." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.542.

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Context: We present a patient diagnosed with Tuberous Sclerosis (TS) who developed West Syndrome (WS) early on. Early diagnosis of TS is important for genetic counseling and WS requires early intervention to avoid neurodevelopmental deficits. Case report: Y.S.L.C., female, 45 days old, presented cardiac rhabdomyoma and 9 hypomelanotic lesions, being diagnosed with TS. At 2 months old, she presented epileptic seizures of flexion spasms, which progressed in 1 week to neuropsychomotor development (NP) regression and hypsarrhythmia. She was diagnosed with WS and treated with vigabatrin. There was suppression of hypsarrhythmic pattern at 8 months old. Currently 8 years old, she has hypochromic stains, hemangiomyolipomas in the right kidney, bilateral renal cysts, sebaceous adenomas, facial angiofibromas, cortical tubers, subependymal nodules, Intellectual Disability and Focal Epilepsy. Conclusions: ET is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes leading neurodevelopmental changes and cellular hyperplasias. TE diagnosis is clinical, based on major (such as facial angiofibromas, nail fibroma and hypopigmented macules) and minor criteria and molecular tests in doubtful cases. TE is associated with epilepsy in 80-90% of cases (30 to 50% of infantile spasms). WS is an encephalopathy of infantile spasms, NP arrest/regression and hypsarrhythmia. Early diagnosis and use of anti-epileptic drugs are necessary to avoid cognitive impairment.
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Weiss, Deike, Tajana Bierhals, Theresia Herget, Katja Kloth, Jessika Johannsen, and Jonas Denecke. "Clinical Spectrum in DNM1 Mutation Beyond Epileptic Encephalopathy Type 31." In Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1698270.

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Abela, L., J. Häberle, K. Steindl, S. Vural, L. Dülli, A. Münst, D. Gubler, et al. "Severe Dystonic Movement Disorder and Developmental Encephalopathy Due to Hexokinase 1 Mutation." In Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1739687.

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Cecchetti, Gabriele, Piero Castoldi, Anna Lina Ruscelli, Stefano Dalmiani, Paolo Marcheschi, Federica Pieroni, Davide Galletti, Valerio Conti, and Renzo Guerrini. "An Enhanced Distributed Computational Platform for Developmental and Epileptic Encephalopathies." In 2022 IEEE International Conference on Pervasive Computing and Communications Workshops and other Affiliated Events (PerCom Workshops). IEEE, 2022. http://dx.doi.org/10.1109/percomworkshops53856.2022.9767273.

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Mammadova, Dilbar, Cornelia Kraus, Thomas Leis, and Regina Trollmann. "Severe Epileptic Encephalopathy in Siblings due to a Novel Heterozygous CACNA1A Gene Mutation." In Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1698222.

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Cabasson, S., F. Villéga, J. Van Gils, C. Cancès, C. Karsenty, S. Rivera, T. Abi-Warde, A. Martin, and J. M. Pédespan. "Early-Onset Epileptic Encephalopathy Related to Germline PIGA Mutations: A Series of Four Patients." In Abstracts of the 47th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique). Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1685433.

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Vlaho, S., O. Shevchenko, S. Wortmann, and I. Borggräfe. "Repeated Successful Crisis Intervention of Mitochondrial (POLG1) Epileptic Encephalopathy with High-Dose I.V. Magnesium Therapy." In Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1739625.

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Mammadova, D. "Cortical Blindness and Epileptic Encephalopathy Due to a Previously Unknown Compound Heterozygous DIAPH1 Gene Mutation." In Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1739614.

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Reports on the topic "Developmental and epileptic encephalopathy"

1

Wang, Jiahe. Efficacy and safety of fenfluramine for developmental and epileptic encephalopathy: Findings from Randomized Controlled Trials. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, May 2022. http://dx.doi.org/10.37766/inplasy2022.5.0089.

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