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Year : 2021  |  Volume : 16  |  Issue : 3  |  Page : 212-217

Case series of early SCN1A-related developmental and epileptic encephalopathies

1 Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India
2 Paediatrics, Indira Gandhi Institute of Child Health, Bengaluru, India
3 Department of Pediatrics, Karnataka Institute of Medical Sciences (KIMS), Hubballi, Karnataka, India

Correspondence Address:
Dr. Vykuntaraju Kammasandra Gowda
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru 560029, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpn.JPN_99_20

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Introduction: The developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of rare neurodevelopmental disorders, characterized by early onset seizures that are often intractable, electroencephalographic abnormalities, developmental delay, or regression. The SCN1A pathogenic variants can present as DEE. They are characterized by early infantile seizure onset, profound intellectual disability, and a severe hyperkinetic movement disorder. Studies are lacking, hence we are reporting a case series of early SCN1A-related DEE. The objective of the study was to report clinical and molecular aspects of early SCN1A-related DEE. Materials and Methods: A retrospective chart review of children with DEEs secondary to SCN1A pathogenic variants from January 2015 to March 2020 in a tertiary care referral center from south India. Results: Out of eleven children, seven were boys. The mean age of presentation was 3.5 months. Nine children had seizures triggered by fever. All the children presented with focal and generalized seizures along with epileptic spasms. No focal neurological deficits were noted; routine testing, neuroimaging, and metabolic tests were normal in all the cases. In all the cases, hypsarrhythmia was noted on electroencephalogram (EEG). All the children had pathogenic variants in the SCN1A gene. Five children responded to steroids, one child responded to vigabatrin, and one child responded to stiripentol, but all of them had relapsed and were refractory to other antiepileptic drugs. At follow-up, all children had developmental delays and six of them had autistic features. Conclusion: Early SCN1A-related encephalopathies should be considered in the differential diagnosis of early infantile epileptic encephalopathies. Identification of this condition is important, as treatment and outcome are different from other epileptic encephalopathies.


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