SCN1A Gene Mutations in Indian Children With Epilepsy: Single Center Experience
Indian Pediatr
;
2023 Aug; 60(8): 648-650
Article
| IMSEAR
| ID: sea-225451
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.
Full text:
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Index:
IMSEAR (South-East Asia)
Journal:
Indian Pediatr
Year:
2023
Type:
Article
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