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Journal articles on the topic 'Developmental and epileptic encephalopathy'

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Author: Grafiati

Published: 10 December 2022

Last updated: 9 March 2023

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1

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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2

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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3

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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4

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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7

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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8

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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9

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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10

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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11

Lewis, Ariane, and Steven Galetta. "Editors' note: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy." Neurology 94, no. 8 (February 24, 2020): 368.1–368. http://dx.doi.org/10.1212/wnl.0000000000009005.

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12

Wolf, Peter, Celina von Stülpnagel, Till Hartlieb, Rikke S. Møller, and Gerhard J. Kluger. "Reader response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy." Neurology 94, no. 8 (February 24, 2020): 368.2–369. http://dx.doi.org/10.1212/wnl.0000000000009007.

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Fung, Eva L. W. "Reader response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy." Neurology 94, no. 8 (February 24, 2020): 369. http://dx.doi.org/10.1212/wnl.0000000000009009.

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Vlaskamp, Danique R. M., and Ingrid E. Scheffer. "Author response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy." Neurology 94, no. 8 (February 24, 2020): 370. http://dx.doi.org/10.1212/wnl.0000000000009010.

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15

Kayyali, Husam R., Ahmed Abdelmoity, and Saleh Baeesa. "The Role of Epilepsy Surgery in the Treatment of Childhood Epileptic Encephalopathy." Epilepsy Research and Treatment 2013 (April 18, 2013): 1–6. http://dx.doi.org/10.1155/2013/983049.

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Children with epileptic encephalopathy often have global impairment of brain function and frequent intractable seizures, which contribute further to their developmental disability. Many of these children have identifiable brain lesion on neurological imaging. In such cases, epilepsy surgery may be considered as a treatment option despite the lack of localized epileptic pattern on electroencephalogram (EEG). In this paper, we summarize the clinical features of epileptic encephalopathy syndromes and review the reported literature on the surgical approach to some of these disorders.

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16

Faqeih, E. A., M. Almannai, M. M. Saleh, A. H. AlWadei, M. M. Samman, and F. S. Alkuraya. "Phenotypic characterization of KCTD3 -related developmental epileptic encephalopathy." Clinical Genetics 93, no. 5 (March 15, 2018): 1081–86. http://dx.doi.org/10.1111/cge.13227.

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17

Sowada, Nadine, Mais Omar Hashem, Rüstem Yilmaz, Muddathir Hamad, Naseebullah Kakar, Holger Thiele, Stefan T. Arold, Harald Bode, Fowzan S. Alkuraya, and Guntram Borck. "Mutations of PTPN23 in developmental and epileptic encephalopathy." Human Genetics 136, no. 11-12 (October 31, 2017): 1455–61. http://dx.doi.org/10.1007/s00439-017-1850-3.

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18

Aeby, Alec, Claudine Sculier, Alexandra A. Bouza, Brandon Askar, Damien Lederer, Anne‐Sofie Schoonjans, Marc Vander Ghinst, et al. "SCN1B ‐linked early infantile developmental and epileptic encephalopathy." Annals of Clinical and Translational Neurology 6, no. 12 (November 11, 2019): 2354–67. http://dx.doi.org/10.1002/acn3.50921.

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19

Lyukshina, N. G., A. A. Sharkov, and E. N. Tolmacheva. "Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case report." Russian Journal of Child Neurology 16, no. 1-2 (July 30, 2021): 69–75. http://dx.doi.org/10.17650/2073-8803-2021-16-1-2-69-75.

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Developmental encephalopathy with epilepsy or epileptic encephalopathy, associated with a heterozygous mutation in the IRF2BPL gene, is a rare severe disorder. It’s manifested by developmental delay or regression of skills until or after epilepsy onset. Patients have a specific facial phenotype, movement disorders with dystonia and choreoathetosis, ataxia, dysarthria, dysmetria, and dysdiadochokinesis. Epilepsy is a common manifestation of the disease (around 70 % of cases), from the age of 6 months to 26 years. Semiology of seizures is vary, including infantile spasms, myoclonic, tonic or clonic seizures with nonspecific electroencephalographic changes. magnetic resonance imaging shows normal brain development at an early age and cortical and cerebellar atrophy developing over time. The authors present a clinical case describing a patient with a causative de novo variant (c.2152delT) in the IRF2BPL gene in Russia.This patient was included to common table in an article entitled “De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy” (DOI: 10.1038/s41436-018-0143-0).

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20

Sadleir, Lynette G., Emily I. Mountier, Deepak Gill, Suzanne Davis, Charuta Joshi, Catherine DeVile, Manju A. Kurian, et al. "Not all SCN1A epileptic encephalopathies are Dravet syndrome." Neurology 89, no. 10 (August 9, 2017): 1035–42. http://dx.doi.org/10.1212/wnl.0000000000004331.

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Objective:To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder.Methods:A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation.Results:We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic seizures, bilateral tonic-clonic seizures, or spasms. All children had profound developmental impairment and were nonverbal and nonambulatory, and 7 of 9 required a gastrostomy. A hyperkinetic movement disorder occurred in all and was characterized by dystonia and choreoathetosis with prominent oral dyskinesia and onset from 2 to 20 months of age. Eight had a recurrent missense SCN1A mutation, p.Thr226Met. The remaining child had the missense mutation p.Pro1345Ser. The mutation arose de novo in 8 of 9; for the remaining case, the mother was negative and the father was unavailable.Conclusions:Here, we present a phenotype-genotype correlation for SCN1A. We describe a distinct SCN1A phenotype, early infantile SCN1A encephalopathy, which is readily distinguishable from the well-recognized entities of Dravet syndrome and genetic epilepsy with febrile seizures plus. This disorder has an earlier age at onset, profound developmental impairment, and a distinctive hyperkinetic movement disorder, setting it apart from Dravet syndrome. Remarkably, 8 of 9 children had the recurrent missense mutation p.Thr226Met.

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Gowda, Vykuntaraju K., Hemadri Vegda, Raghavendraswami Amoghimath, Manojna Battina, Sanjay K. Shivappa, and Naveen Benakappa. "Epileptic Spasms-West syndrome secondary to Dravet syndrome due to SCN gene mutation from India." Karnataka Pediatric Journal 36 (June 2, 2021): 49–53. http://dx.doi.org/10.25259/kpj_36_2020.

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Objectives: West syndrome (WS) is a triad of epileptic spasms, developmental delay/regression, and hypsarrhythmia. SCN related epileptic encephalopathy is a rare epilepsy syndrome characterized by an early-onset, severe, and epileptic encephalopathy. The causes of WS are multiple and diverse ranging from genetic to structural, metabolic, and unknown causes. The objectives of the study were to report SCN related epileptic encephalopathies with epileptic spasms. Materials and Methods: This is retrospective chart review of children presenting with epileptic spasms secondary to SCN gene variants from January 2015 to March 2020 in a tertiary care referral center. Results: Out of 15 children, ten were boys. The mean age of presentation was 5 months. Thirteen children had preceded seizures before epileptic spasms in the 1st year of life, two children presented initially with epileptic spasms. No neuro-deficits were noted in all the children. In all the cases electroencephalogram was suggestive of hypsarrhythmia. Routine testing, neuroimaging, and metabolic tests were normal in all the cases. Various pathogenic variants seen in next-generation sequencing were SCN1A in 11, SCN1B and SCN2A in two children each. Three children responded for vigabatrin and five children responded for steroids but all of them had relapse and were refractory to other antiepileptic drugs. Conclusion: SCN related epileptic encephalopathy should be considered in the differential diagnosis of epileptic spasms. These infants present earlier compare to classical Dravet syndrome children.

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22

Aziz, Miriam C., Patricia N. Schneider, and Gemma L. Carvill. "Targeting Poison Exons to Treat Developmental and Epileptic Encephalopathy." Developmental Neuroscience 43, no. 3-4 (2021): 241–46. http://dx.doi.org/10.1159/000516143.

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Developmental and epileptic encephalopathies (DEEs) describe a subset of neurodevelopmental disorders categorized by refractory epilepsy that is often associated with intellectual disability and autism spectrum disorder. The majority of DEEs are now known to have a genetic basis with de novo coding variants accounting for the majority of cases. More recently, a small number of individuals have been identified with intronic <i>SCN1A</i> variants that result in alternative splicing events that lead to ectopic inclusion of poison exons (PEs). PEs are short highly conserved exons that contain a premature truncation codon, and when spliced into the transcript, lead to premature truncation and subsequent degradation by nonsense-mediated decay. The reason for the inclusion/exclusion of these PEs is not entirely clear, but research suggests an autoregulatory role in gene expression and protein abundance. This is seen in proteins such as RNA-binding proteins and serine/arginine-rich proteins. Recent studies have focused on targeting these PEs as a method for therapeutic intervention. Targeting PEs using antisense oligonucleotides (ASOs) has shown to be effective in modulating alternative splicing events by decreasing the amount of transcripts harboring PEs, thus increasing the abundance of full-length transcripts and thereby the amount of protein in haploinsufficient genes implicated in DEE. In the age of personalized medicine, cellular and animal models of the genetic epilepsies have become essential in developing and testing novel precision therapeutics, including PE-targeting ASOs in a subset of DEEs.

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23

Westerveld, Michael, Ki Lee, and Christine Salinas. "Neuropsychological functioning and developmental outcomes in childhood epileptic encephalopathy." Journal of Pediatric Epilepsy 03, no. 03 (July 18, 2015): 157–71. http://dx.doi.org/10.3233/pep-14090.

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24

Rubboli, Guido, and Katrine M. Johannesen. "Expanding the phenotype of PURA-related developmental epileptic encephalopathy." Epileptic Disorders 24, no. 2 (April 2022): 445–46. http://dx.doi.org/10.1684/epd.2021.1407.

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Shiraku, Hiroshi, Mitsuko Nakashima, Saoko Takeshita, Chai-Soon Khoo, Muzhirah Haniffa, Gaik-Siew Ch'ng, Kazuma Takada, et al. "PLPBPmutations cause variable phenotypes of developmental and epileptic encephalopathy." Epilepsia Open 3, no. 4 (November 1, 2018): 495–502. http://dx.doi.org/10.1002/epi4.12272.

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26

Krenn, Martin, Alexej Knaus, Dominik S. Westphal, Saskia B. Wortmann, Tilman Polster, Friedrich G. Woermann, Michael Karenfort, et al. "Biallelic mutations in PIGP cause developmental and epileptic encephalopathy." Annals of Clinical and Translational Neurology 6, no. 5 (April 11, 2019): 968–73. http://dx.doi.org/10.1002/acn3.768.

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27

Shah, Mala M. "A new HCN1 channelopathy: implications for epilepsy." Brain 144, no. 7 (June 11, 2021): 1939–40. http://dx.doi.org/10.1093/brain/awab220.

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Knijnenburg, Annemarie C. S., Joost Nicolai, Levinus A. Bok, Akin Bay, Alexander P. A. Stegmann, Margje Sinnema, and Maaike Vreeburg. "Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation." Neurology Genetics 6, no. 3 (April 1, 2020): e418. http://dx.doi.org/10.1212/nxg.0000000000000418.

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ObjectiveDe novo missense mutations in the RHOBTB2 gene have been described as causative for developmental and epileptic encephalopathy.MethodsThe clinical phenotype of this disorder includes early-onset epilepsy, severe intellectual disability, postnatal microcephaly, and movement disorder. Three RHOBTB2 patients have been described with acute encephalopathy and febrile epileptic status. All showed severe EEG abnormalities during this episode and abnormal MRI with hemisphere swelling or reduced diffusion in various brain regions.ResultsWe describe the episode of acute encephalopathy after head trauma in a 5-year-old RHOBTB2 patient. At admission, Glasgow coma scale score was E4M4V1. EEG was severely abnormal showing a noncontinuous pattern with slow activity without epileptic activity indicating severe encephalopathy. A second EEG on day 8 was still severely slowed and showed focal delta activity frontotemporal in both hemispheres. Gradually, he recovered, and on day 11, he had regained his normal reactivity, behavior, and mood. Two months after discharge, EEG showed further decrease in slow activity and increase in normal electroencephalographic activity. After discharge, parents noted that he showed more hyperkinetic movements compared to before this period of encephalopathy. Follow-up MRI showed an increment of hippocampal atrophy. In addition, we summarize the clinical characteristics of a second RHOBTB2 patient with increase of focal periventricular atrophy and development of hemiparesis after epileptic status.ConclusionsAcute encephalopathy in RHOBTB2 patients can also be triggered by head trauma.

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Amador, Ariadna, Christopher D. Bostick, Heather Olson, Jurrian Peters, Chad R. Camp, Daniel Krizay, Wenjuan Chen, et al. "Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice." Brain 143, no. 7 (June 24, 2020): 2039–57. http://dx.doi.org/10.1093/brain/awaa147.

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Abstract NMDA receptors play crucial roles in excitatory synaptic transmission. Rare variants in GRIN2A encoding the GluN2A subunit are associated with a spectrum of disorders, ranging from mild speech and language delay to intractable neurodevelopmental disorders, including but not limited to developmental and epileptic encephalopathy. A de novo missense variant, p.Ser644Gly, was identified in a child with this disorder, and Grin2a knock-in mice were generated to model and extend understanding of this intractable childhood disease. Homozygous and heterozygous mutant mice exhibited altered hippocampal morphology at 2 weeks of age, and all homozygotes exhibited lethal tonic-clonic seizures by mid-third week. Heterozygous adults displayed susceptibility to induced generalized seizures, hyperactivity, repetitive and reduced anxiety behaviours, plus several unexpected features, including significant resistance to electrically-induced limbic seizures and to pentylenetetrazole induced tonic-clonic seizures. Multielectrode recordings of neuronal networks revealed hyperexcitability and altered bursting and synchronicity. In heterologous cells, mutant receptors had enhanced NMDA receptor agonist potency and slow deactivation following rapid removal of glutamate, as occurs at synapses. NMDA receptor-mediated synaptic currents in heterozygous hippocampal slices also showed a prolonged deactivation time course. Standard anti-epileptic drug monotherapy was ineffective in the patient. Introduction of NMDA receptor antagonists was correlated with a decrease in seizure burden. Chronic treatment of homozygous mouse pups with NMDA receptor antagonists significantly delayed the onset of lethal seizures but did not prevent them. These studies illustrate the power of using multiple experimental modalities to model and test therapies for severe neurodevelopmental disorders, while revealing significant biological complexities associated with GRIN2A developmental and epileptic encephalopathy.

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Zhu, Zahra, Elizabeth Bolt, Kyra Newmaster, Wendy Osei-Bonsu, Stacey Cohen, Vishnu Anand Cuddapah, Siddharth Gupta, et al. "SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy." Children 9, no. 10 (October 1, 2022): 1507. http://dx.doi.org/10.3390/children9101507.

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Background: Pathogenic variants in SCN1B, the gene encoding voltage-gated sodium channel b1/b1B subunits are associated with a spectrum of epileptic disorders. This study describes a child with early myoclonic encephalopathy and a compound heterozygous variant in the SCN1B gene (p.Arg85Cys and c.3G>C/p.Met1), along with the child’s clinical response to anti-seizure medications (ASMs) and the ketogenic diet. We reviewed the current clinical literature pertinent to SCN1B-related epilepsy. Methods: We described the evaluation and management of a patient with SCN1B-related developmental and epileptic encephalopathy (DEE). We used the Medline and Pubmed databases to review the various neurological manifestations associated with SCN1B genetic variants, and summarize the functional studies performed on SCN1B variants. Results: We identified 20 families and six individuals (including the index case described herein) reported to have SCN1B-related epilepsy. Individuals with monoallelic pathogenic variants in SCN1B often present with genetic epilepsy with febrile seizures plus (GEFS+), while those with biallelic pathogenic variants may present with developmental and epileptic encephalopathy (DEE). Individuals with DEE present with seizures of various semiologies (commonly myoclonic seizures) and status epilepticus at early infancy and are treated with various antiseizure medications. In our index case, adjunctive fenfluramine was started at 8 months of age at 0.2 mg/kg/day with gradual incremental increases to the final dose of 0.7 mg/kg/day over 5 weeks. Fenfluramine was effective in the treatment of seizures, resulting in a 50% reduction in myoclonic seizures, status epilepticus, and generalized tonic-clonic seizures, as well as a 70–90% reduction in focal seizures, with no significant adverse effects. Following the initiation of fenfluramine at eight months of age, there was also a 50% reduction in the rate of hospitalizations. Conclusions: SCN1B pathogenic variants cause epilepsy and neurodevelopmental impairment with variable expressivity and incomplete penetrance. The severity of disease is associated with the zygosity of the pathogenic variants. Biallelic variants in SCN1B can result in early myoclonic encephalopathy, and adjunctive treatment with fenfluramine may be an effective treatment for SCN1B-related DEE. Further research on the efficacy and safety of using newer ASMs, such as fenfluramine in patients under the age of 2 years is needed.

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Giacomini, Thea, Maria Stella Vari, Sara Janis, Giulia Prato, Livia Pisciotta, Alessia Rocchi, Angela Michelucci, et al. "Epileptic Encephalopathy, Myoclonus–Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene." Neuropediatrics 50, no. 05 (July 18, 2019): 327–31. http://dx.doi.org/10.1055/s-0039-1692141.

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AbstractThe X-linked alpha thalassemia mental retardation (ATR-X) syndrome is a genetic disorder caused by X-linked recessive mutations in ATRX gene, related to a wide spectrum of clinical manifestations, such as alpha thalassemia, developmental delay, genital abnormalities, and gastrointestinal disorders. Patients with ATR-X syndrome can suffer from different types of epileptic seizures, but a severe epileptic encephalopathy pattern has not been described to date. We describe, for the first time, two brothers with genetically confirmed ATR-X syndrome who presented with drug-resistant epileptic encephalopathy, with tonic and polimorphic seizures reported in the elder brother and epileptic spasms in the younger brother. Moreover, both brothers showed a peculiar movement disorder with myoclonus–dystonia, worsened during periods of distress or pain. These cases expand the clinical spectrum of ATR-X syndrome and open new opportunities for the molecular diagnosis of ATRX mutations in male patients with severe epileptic encephalopathies and movement disorders.

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Chatron, Nicolas, Felicitas Becker, Heba Morsy, Miriam Schmidts, Katia Hardies, Beyhan Tuysuz, Sandra Roselli, et al. "Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy." Brain 143, no. 5 (April 13, 2020): 1447–61. http://dx.doi.org/10.1093/brain/awaa085.

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Abstract Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented by 11 patients from six independent consanguineous families. Seizure onset occurred in the first 2 months of life in all patients. All 10 patients, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight patients had joint contractures and/or pes equinovarus. Seven patients presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four patients died before 4 years of age. GAD1 encodes the glutamate decarboxylase enzyme GAD67, a critical actor of the γ-aminobutyric acid (GABA) metabolism as it catalyses the decarboxylation of glutamic acid to form GABA. Our findings evoke a novel syndrome related to GAD67 deficiency, characterized by the unique association of developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele.

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Sega, Annalisa G., Emily K. Mis, Kristin Lindstrom, Saadet Mercimek-Andrews, Weizhen Ji, Megan T. Cho, Jane Juusola, et al. "De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy." Journal of Medical Genetics 56, no. 2 (October 15, 2018): 113–22. http://dx.doi.org/10.1136/jmedgenet-2018-105322.

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BackgroundEarly infantile epileptic encephalopathies are severe disorders consisting of early-onset refractory seizures accompanied often by significant developmental delay. The increasing availability of next-generation sequencing has facilitated the recognition of single gene mutations as an underlying aetiology of some forms of early infantile epileptic encephalopathies.ObjectivesThis study was designed to identify candidate genes as a potential cause of early infantile epileptic encephalopathy, and then to provide genetic and functional evidence supporting patient variants as causative.MethodsWe used whole exome sequencing to identify candidate genes. To model the disease and assess the functional effects of patient variants on candidate protein function, we used in vivo CRISPR/Cas9-mediated genome editing and protein overexpression in frog tadpoles.ResultsWe identified novel de novo variants in neuronal differentiation factor 2 (NEUROD2) in two unrelated children with early infantile epileptic encephalopathy. Depleting neurod2 with CRISPR/Cas9-mediated genome editing induced spontaneous seizures in tadpoles, mimicking the patients’ condition. Overexpression of wild-type NEUROD2 induced ectopic neurons in tadpoles; however, patient variants were markedly less effective, suggesting that both variants are dysfunctional and likely pathogenic.ConclusionThis study provides clinical and functional support for NEUROD2 variants as a cause of early infantile epileptic encephalopathy, the first evidence of human disease caused by NEUROD2 variants.

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Tsuchida, Naomi, Keisuke Hamada, Masaaki Shiina, Mitsuhiro Kato, Yu Kobayashi, Jun Tohyama, Kazue Kimura, et al. "GRIN2D variants in three cases of developmental and epileptic encephalopathy." Clinical Genetics 94, no. 6 (November 14, 2018): 538–47. http://dx.doi.org/10.1111/cge.13454.

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Soldovieri, Maria Virginia, Elena Freri, Paolo Ambrosino, Ilaria Rivolta, Ilaria Mosca, Anna Binda, Carmen Murano, et al. "Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy." Pharmacological Research 160 (October 2020): 105200. http://dx.doi.org/10.1016/j.phrs.2020.105200.

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Ohtahara, Shunsuke, Yoko Ohtsuka, Yasuko Yamatogi, and Eiji Oka. "The early-infantile epileptic encephalopathy with suppression-burst: Developmental aspects." Brain and Development 9, no. 4 (January 1987): 371–76. http://dx.doi.org/10.1016/s0387-7604(87)80110-9.

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Kim, Hyo Jeong, Donghwa Yang, Se Hee Kim, Borahm Kim, Heung Dong Kim, Joon Soo Lee, Jong Rak Choi, Seung-Tae Lee, and Hoon-Chul Kang. "Genetic and clinical features of SCN8A developmental and epileptic encephalopathy." Epilepsy Research 158 (December 2019): 106222. http://dx.doi.org/10.1016/j.eplepsyres.2019.106222.

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Whitney, Robyn, Elaine Choi, and Kevin C. Jones. "The neuroimaging spectrum of SLC13A5 related developmental and epileptic encephalopathy." Seizure 106 (March 2023): 8–13. http://dx.doi.org/10.1016/j.seizure.2023.01.014.

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Neuray, Caroline, Reza Maroofian, Marcello Scala, Tipu Sultan, Gurpur S. Pai, Majid Mojarrad, Heba El Khashab, et al. "Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants." Brain 143, no. 8 (July 23, 2020): 2388–97. http://dx.doi.org/10.1093/brain/awaa178.

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Abstract Gamma-aminobutyric acid (GABA) and glutamate are the most abundant amino acid neurotransmitters in the brain. GABA, an inhibitory neurotransmitter, is synthesized by glutamic acid decarboxylase (GAD). Its predominant isoform GAD67, contributes up to ∼90% of base-level GABA in the CNS, and is encoded by the GAD1 gene. Disruption of GAD1 results in an imbalance of inhibitory and excitatory neurotransmitters, and as Gad1−/− mice die neonatally of severe cleft palate, it has not been possible to determine any potential neurological dysfunction. Furthermore, little is known about the consequence of GAD1 disruption in humans. Here we present six affected individuals from six unrelated families, carrying bi-allelic GAD1 variants, presenting with developmental and epileptic encephalopathy, characterized by early-infantile onset epilepsy and hypotonia with additional variable non-CNS manifestations such as skeletal abnormalities, dysmorphic features and cleft palate. Our findings highlight an important role for GAD1 in seizure induction, neuronal and extraneuronal development, and introduce GAD1 as a new gene associated with developmental and epileptic encephalopathy.

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Mukhin, K. Yu, O. A. Pylaeva, M. Yu Bobylova, and V. A. Chadaev. "Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations." Russian Journal of Child Neurology 16, no. 1-2 (July 30, 2021): 10–41. http://dx.doi.org/10.17650/2073-8803-2021-16-1-2-10-41.

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The disease caused by mutations in the CDKL5 gene (encoding cyclin-dependent kinase 5, CDK5) belongs to the group of early (infantile) epileptic encephalopathies caused by alterations in the genome. Currently, the disease is called “developmental encephalopathy and epileptic encephalopathy type 2”. This disorder is a complex combination of symptoms that develop due to deficiency or absence of the CDKL5 gene product, which is serine/threonine kinase. The CDKL5 gene is located on X chromosome; the disease has an X-linked dominant inheritance pattern. This literature review summarizes relevant studies analyzing the disease caused by CDKL5 gene mutations, including its genetic and epidemiological aspects, clinical manifestations, characteristics of epilepsy, principles of diagnosis, and therapeutic approaches. We present a case series of several patients with genetic disorders involving the CDKL5 gene.

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Bleakley, Lauren E., Chaseley E. McKenzie, Ming S. Soh, Ian C. Forster, Paulo Pinares-Garcia, Alicia Sedo, Anirudh Kathirvel, et al. "Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy." Brain 144, no. 7 (April 1, 2021): 2060–73. http://dx.doi.org/10.1093/brain/awab145.

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Abstract Pathogenic variants in HCN1 are associated with developmental and epileptic encephalopathies. The recurrent de novo HCN1 M305L pathogenic variant is associated with severe developmental impairment and drug-resistant epilepsy. We engineered the homologue Hcn1 M294L heterozygous knock-in (Hcn1M294L) mouse to explore the disease mechanism underlying an HCN1 developmental and epileptic encephalopathy. The Hcn1M294L mouse recapitulated the phenotypic features of patients with the HCN1 M305L variant, including spontaneous seizures and a learning deficit. Active epileptiform spiking on the electrocorticogram and morphological markers typical of rodent seizure models were observed in the Hcn1M294L mouse. Lamotrigine exacerbated seizures and increased spiking, whereas sodium valproate reduced spiking, mirroring drug responses reported in a patient with this variant. Functional analysis in Xenopus laevis oocytes and layer V somatosensory cortical pyramidal neurons in ex vivo tissue revealed a loss of voltage dependence for the disease variant resulting in a constitutively open channel that allowed for cation ‘leak’ at depolarized membrane potentials. Consequently, Hcn1M294L layer V somatosensory cortical pyramidal neurons were significantly depolarized at rest. These neurons adapted through a depolarizing shift in action potential threshold. Despite this compensation, layer V somatosensory cortical pyramidal neurons fired action potentials more readily from rest. A similar depolarized resting potential and left-shift in rheobase was observed for CA1 hippocampal pyramidal neurons. The Hcn1M294L mouse provides insight into the pathological mechanisms underlying hyperexcitability in HCN1 developmental and epileptic encephalopathy, as well as being a preclinical model with strong construct and face validity, on which potential treatments can be tested.

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XiangWei, Wenshu, Varun Kannan, Yuchen Xu, Gabrielle J. Kosobucki, Anthony J. Schulien, Hirofumi Kusumoto, Christelle Moufawad El Achkar, et al. "Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy." Brain 142, no. 10 (August 31, 2019): 3009–27. http://dx.doi.org/10.1093/brain/awz232.

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NMDA receptors are implicated in various neurological diseases. XiangWei et al. identify seven GRIN2D variants associated with developmental and epileptic encephalopathy. They describe the clinical phenotypes and evaluate functional changes, including pharmacological properties, surface trafficking, and neurotoxicity, as well as the responses to FDA-approved NMDAR drugs for potential rescue pharmacology.

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Vlaskamp, Danique R. M., Benjamin J. Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T. Myers, et al. "SYNGAP1 encephalopathy." Neurology 92, no. 2 (December 12, 2018): e96-e107. http://dx.doi.org/10.1212/wnl.0000000000006729.

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ObjectiveTo delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort.MethodsPatients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1. We analyzed patients' phenotypes using a standardized epilepsy questionnaire, medical records, EEG, MRI, and seizure videos.ResultsWe included 57 patients (53% male, median age 8 years) with SYNGAP1 mutations (n = 53) or microdeletions (n = 4). Of the 57 patients, 56 had epilepsy: generalized in 55, with focal seizures in 7 and infantile spasms in 1. Median seizure onset age was 2 years. A novel type of drop attack was identified comprising eyelid myoclonia evolving to a myoclonic-atonic (n = 5) or atonic (n = 8) seizure. Seizure types included eyelid myoclonia with absences (65%), myoclonic seizures (34%), atypical (20%) and typical (18%) absences, and atonic seizures (14%), triggered by eating in 25%. Developmental delay preceded seizure onset in 54 of 56 (96%) patients for whom early developmental history was available. Developmental plateauing or regression occurred with seizures in 56 in the context of a developmental and epileptic encephalopathy (DEE). Fifty-five of 57 patients had intellectual disability, which was moderate to severe in 50. Other common features included behavioral problems (73%); high pain threshold (72%); eating problems, including oral aversion (68%); hypotonia (67%); sleeping problems (62%); autism spectrum disorder (54%); and ataxia or gait abnormalities (51%).ConclusionsSYNGAP1 mutations cause a generalized DEE with a distinctive syndrome combining epilepsy with eyelid myoclonia with absences and myoclonic-atonic seizures, as well as a predilection to seizures triggered by eating.

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Charkhand, Behshad, Natarie Liu, Karlene T. Barrett, Walla Al-Hertani, and Morris H. Scantlebury. "An Unusual Case of Infantile Spasms Due to a Pathogenic Variant in the MECP2 Gene." Journal of Pediatric Neurology 18, no. 01 (March 13, 2019): 039–44. http://dx.doi.org/10.1055/s-0039-1683436.

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AbstractThe infantile spasms (IS) syndrome is a developmental epileptic encephalopathy disorder characterized by epileptic spasms occurring in infancy, hypsarrhythmia on the electroencephalography (EEG) and developmental arrest or regression. The etiologies include structural, metabolic, and genetic causes. We report an unusual case of IS due to a de novo variant in the MECP2 gene. The patient also had variants of uncertain significance in the SCN9A and SCN5A genes inherited from the father and mother, respectively. This report highlights the need for broad genetic testing in MECP2-related disorders with atypical presentations to better understand the disease etiology.

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Burr, Tyler J., and Karen L. Skjei. "Dravet Syndrome: Early Diagnosis and Emerging Therapies." Journal of Pediatric Epilepsy 08, no. 02 (June 2019): 031–37. http://dx.doi.org/10.1055/s-0039-1692171.

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AbstractDravet's syndrome (DS) or severe myoclonic epilepsy of infancy is a rare, genetic, and infantile-onset epileptic encephalopathy. DS presents with recurrent febrile seizures and/or febrile status epilepticus in developmentally normal infants, and subsequently evolves into a drug-resistant mixed-seizure disorder with developmental arrest or regression. As many defining clinical features of DS do not become evident until 3 to 4 years of age, diagnosis is often delayed. Early seizure control, particularly the prevention of status epilepticus in infancy, has been shown to correlate with better long-term outcomes. Thus, early diagnosis and seizure control is crucial. Several treatment algorithms have been published in recent years to guide antiepileptic drug selection and escalation. Last year, two agents, stiripentol and cannabidiol, were approved by the U.S. Food and Drug Administration specifically for use in DS, and a third has been submitted (fenfluramine). Additional therapies, including serotonin modulators lorcaserin and trazodone, verapamil, and several first-in-class medications, are currently in various phases of investigation.

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AlTassan, Ruqaiah, Hanan AlQudairy, Rakan Alromayan, Abdullah Alfalah, Omar A. AlHarbi, Ana C. González-Álvarez, Stefan T. Arold, and Namik Kaya. "Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1." Genes 13, no. 12 (November 30, 2022): 2252. http://dx.doi.org/10.3390/genes13122252.

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Heterozygous pathogenic variants in DNM1 are linked to an autosomal dominant form of epileptic encephalopathy. Recently, homozygous loss-of-function variants in DNM1 were reported to cause an autosomal recessive form of developmental and epileptic encephalopathy in unrelated patients. Here, we investigated a singleton from a first-degree cousin marriage who presented with facial dysmorphism, global developmental delay, seizure disorder, and nystagmus. To identify the involvement of any likely genetic cause, diagnostic clinical exome sequencing was performed. Comprehensive filtering revealed a single plausible candidate variant in DNM1. Sanger sequencing of the trio, the patient, and her parents, confirmed the full segregation of the variant. The variant is a deletion leading to a premature stop codon and is predicted to cause a protein truncation. Structural modeling implicated a complete loss of function of the Dynamin 1 (DNM1). Such mutation is predicted to impair the nucleotide binding, dimer formation, and GTPase activity of DNM1. Our study expands the phenotypic spectrum of pathogenic homozygous loss-of-function variants in DNM1.

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Tanaka, Ryosuke, Satoru Takahashi, Mami Kuroda, Ryo Takeguchi, Nao Suzuki, Yoshio Makita, Yoko Narumi-Kishimoto, and Tadashi Kaname. "Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy." Epileptic Disorders 22, no. 4 (August 2020): 501–5. http://dx.doi.org/10.1684/epd.2020.1187.

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Kim, Hyo Jeong, Donghwa Yang, Se Hee Kim, Borahm Kim, Heung Dong Kim, Joon Soo Lee, Jong Rak Choi, Seung-Tae Lee, and Hoon-Chul Kang. "The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy." Epileptic Disorders 22, no. 5 (October 2020): 563–70. http://dx.doi.org/10.1684/epd.2020.1199.

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Yoganathan, Sangeetha, Gautham Arunachal, Vykuntaraju K. Gowda, Kollencheri Puthenveettil Vinayan, Maya Thomas, Robyn Whitney, and Puneet Jain. "NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases." Seizure 92 (November 2021): 52–55. http://dx.doi.org/10.1016/j.seizure.2021.08.008.

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Lo Barco, Tommaso, Luciana De Gaetano, Elisabetta Santangelo, Tonino Bravi, Jacopo Proietti, Gaetano Cantalupo, Isabella Brambilla, and Francesca Darra. "SYNGAP1-related developmental and epileptic encephalopathy: The impact on daily life." Epilepsy & Behavior 127 (February 2022): 108500. http://dx.doi.org/10.1016/j.yebeh.2021.108500.

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