Affiliations: Department of Neurology, Carver College of Medicine,
The University of Iowa, Iowa City, IA, USA | Department of Pediatrics, Carver College of Medicine,
The University of Iowa, Iowa City, IA, USA | Department of Pediatrics, Division of Pediatric
Neurology, Carver College of Medicine, The University of Iowa, Iowa City, IA,
USA
Note: [] Correspondence: Dr. Charuta Joshi, M.D., Department of
Pediatrics, Division of Pediatric Neurology, Carver College of Medicine, The
University of Iowa, Iowa City, IA, USA. Tel.: +1 319 356 1851; Fax: +1 319 356
4855; E-mail: [email protected]
Abstract: 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.
