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Updated: Jul 29, 2025
A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy
Published on: July 12, 2021
SCN1A Gene Mutations in Indian Children With Epilepsy: Single Center Experience
Goske Maruthi1, Pavithra Dhayalan1, Priyanka Kumaran1
1Department of Molecular Genetics, Lifecell International Private Limited, Keelakottaiyur, Chennai, Tamil Nadu.
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.
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