Genetic analysis of self-limiting familial infantile epilepsy caused by PRRT2 variants in Indian patients.

Abstract excerpt

INTRODUCTION: Self-limiting familial infantile epilepsy (SeLFIE) is an epilepsy syndrome characterized by recurrent focal motor seizures. It follows an autosomal dominant inheritance pattern. Phenotypic and genetic heterogeneity of SeLFIE are associated with the PRRT2 gene, with the most common mutation being the frameshift variant c.649dupC. This study broadens the mutation spectrum of PRRT2 associated with...

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• Anticonvulsants
• Child, Preschool
• Epilepsy
• Frameshift Mutation
• India