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Статті в журналах з теми "Developmental and epileptic encephalopathy"
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.
Повний текст джерелаBerg, 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.
Повний текст джерелаWild, 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.
Повний текст джерелаGardella, 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.
Повний текст джерелаHung, 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.
Повний текст джерелаLopez-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.
Повний текст джерелаBartolini, Emanuele. "Inherited Developmental and Epileptic Encephalopathies." Neurology International 13, no. 4 (November 3, 2021): 555–68. http://dx.doi.org/10.3390/neurolint13040055.
Повний текст джерелаStawicka, 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.
Повний текст джерелаTakai, 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.
Повний текст джерелаJohannesen, 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.
Повний текст джерелаДисертації з теми "Developmental and epileptic encephalopathy"
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.
Повний текст джерелаSCN8A 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.
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.
Повний текст джерелаTRIVISANO, MARINA. "Characterization of a new epileptic syndrome due to PCDH19 gene mutation." Doctoral thesis, Università di Foggia, 2017. http://hdl.handle.net/11369/363290.
Повний текст джерелаObjective: 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.
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.
Повний текст джерелаTiivistelmä 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
Stipa, Carlotta <1983>. "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.
Повний текст джерелаBrough, 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/.
Повний текст джерелаLindström, 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/.
Повний текст джерелаKuramoto, 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.
Повний текст джерелаKyoto 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
Kuchenbuch, Mathieu. "Modélisation computationelle de l'épilepsie avec crises focales migrantes du nourrisson." Thesis, Rennes 1, 2019. http://www.theses.fr/2019REN1B062.
Повний текст джерелаEpilepsy 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
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.
Повний текст джерелаChromosomal 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
Книги з теми "Developmental and epileptic encephalopathy"
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.
Знайти повний текст джерелаJan, Gillis, ed. Oakdale: The Lapeer State Home. [United States]: Arcadia Publishing, 2014.
Знайти повний текст джерелаSang-in, Chŏn, ред. Hanʼguk hyŏndaesa: Chinsil kwa haesŏk. Kyŏnggi-do Pʻaju-si: Nanam Chʻulpʻan, 2005.
Знайти повний текст джерелаNita, 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.
Повний текст джерелаEpilepsy, infantile spasms, and developmental encephalopathy. Amsterdam: Academic, 2002.
Знайти повний текст джерелаSchwartzkroin, Philip A., and Jong M. Rho. Epilepsy, Infantile Spasms, and Developmental Encephalopathy. Elsevier Science & Technology Books, 2002.
Знайти повний текст джерела(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.
Знайти повний текст джерелаMadge, 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.
Знайти повний текст джерелаPollandt, Sebastian, and Lori Shutter. Antiseizure agents in critical illness. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199600830.003.0045.
Повний текст джерелаGillis, Jan, and Laura Fromwiller. Oakdale: The Lapeer State Home. Arcadia Publishing, 2014.
Знайти повний текст джерелаЧастини книг з теми "Developmental and epileptic encephalopathy"
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.
Повний текст джерелаFriede, 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.
Повний текст джерелаStarnes, 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.
Повний текст джерелаSogawa, 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.
Повний текст джерелаStriano, 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.
Повний текст джерелаChen, 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.
Повний текст джерелаVan 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.
Повний текст джерелаLevtova, 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.
Повний текст джерелаIuso, 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.
Повний текст джерелаPrasun, 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.
Повний текст джерелаТези доповідей конференцій з теми "Developmental and epileptic encephalopathy"
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.
Повний текст джерелаPinto, 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.
Повний текст джерелаMoura, 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.
Повний текст джерелаWeiss, 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.
Повний текст джерелаAbela, 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.
Повний текст джерелаCecchetti, 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.
Повний текст джерелаMammadova, 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.
Повний текст джерелаCabasson, 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.
Повний текст джерелаVlaho, 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.
Повний текст джерелаMammadova, 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.
Повний текст джерелаЗвіти організацій з теми "Developmental and epileptic encephalopathy"
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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