In this article, we report a novel, unreported SCN1A mutation in a 3-year-old girl with Dravet syndrome. She has an insertional mutation of an adenine nucleotide immediately adjacent to base pair 1566 in exon 10, resulting in a premature stop codon at amino acid 524. We review the current literature on Dravet syndrome, also known as severe myoclonic epilepsy in infancy.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology