SCN1A Gene Mutations in Indian Children With Epilepsy: Single Center Experience
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Date
2023-08
Journal Title
Journal ISSN
Volume Title
Publisher
Indian Academy of Pediatrics
Abstract
Objective: To study prevalence of SCN1A gene mutations in complex seizure disorders. Methods: Retrospective laboratory based study on samples sent for molecular diagnosis in complex seizure disorders. Exome sequencing was performed. Phenotype- genotype correlation was done for patients showing variants in SCN1A gene. Results: 364 samples were evaluated; of which, 54% were of children below 5 years of age. SCN1A mutations were seen in 50 samples of patients with complex seizure disorders; 44 variants were identified. Types of seizure disorders commonly associated were Dravet syndrome and genetic epilepsy with febrile seizures. Conclusions: SCN1A mutations are common in complex seizure disorders, especially Dravet syndrome. Early identification of SCN1A gene in etiology is important for selection of correct antiepileptic and counselling.
Description
Keywords
Dravet syndrome, Epileptic encephalopathy, Evaluation.
Citation
Maruthi Goske, Dhayalan Pavithra, Kumaran Priyanka, Soundraoandiyan Jagatheesh, Gambhir Prakash. SCN1A Gene Mutations in Indian Children With Epilepsy: Single Center Experience. Indian Pediatrics. 2023 Aug; 60(8): 648-650