AUTHOR=Ma Rui , Duan Yiran , Zhang Liping , Qi Xiaohong , Zhang Lu , Pan Sipei , Gao Lehong , Wang Chaodong , Wang Yuping 

TITLE=SCN1A-Related Epilepsy: Novel Mutations and Rare Phenotypes

JOURNAL=Frontiers in Molecular Neuroscience

VOLUME=Volume 15 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/molecular-neuroscience/articles/10.3389/fnmol.2022.826183

DOI=10.3389/fnmol.2022.826183

ISSN=1662-5099

ABSTRACT=Objectives: To expand the genotypes and phenotypes of sodium voltage-gated channel alpha subunit 1 (SCN1A)-related epilepsy.
Methods: We retrospectively collected the clinical and genetic information of 22 epilepsy patients (10 males, 12 females; mean: 9.2 ± 3.9 years; 3.9-20.3 years) carrying 22 variants of SCN1A. SCN1A mutations were identified by next-generation sequencing.
Results: Twenty-two variants were identified, among which 12 have not yet been reported. The median age at seizure onset was 6 months. Sixteen patients were diagnosed with Dravet syndrome, two with genetic epilepsy with febrile seizures plus (one evolved into benign epilepsy with centrotemporal spikes (BECTS)), one with focal epilepsy, one with atypical childhood epilepsy with centrotemporal spikes (ABECTS) and two with unclassified epilepsy. Fourteen patients showed a global developmental delay/intellectual disability (GDD/ID). Slow background activities were observed in one patient and epileptiform discharges were observed in 11 patients during the interictal phase.
Significance: This study enriches the genotypes and phenotypes of SCN1A-related epilepsy. The clinical characteristics of patients with 12 previously unreported variants were described.