SCN2A Mutations and Benign Familial Neonatal‐Infantile Seizures: The Phenotypic Spectrum
Open Access
- 26 March 2007
- Vol. 48 (6) , 1138-1142
- https://doi.org/10.1111/j.1528-1167.2007.01049.x
Abstract
Summary: Mutations of the sodium channel subunit gene SCN2A have been described in families with benign familial neonatal‐infantile seizure (BFNIS). We describe two large families with BFNIS and novel SCN2A mutations. The families had 12 and 9 affected individuals, respectively, with phenotypes consistent with BFNIS. Two mutations were discovered in SCN2A (E430Q; I1596S). Both families had individuals with neonatal onset but the typical age of onset was in the early infantile period (mean 3.0 months). One mutation positive individual, with an otherwise typical clinical pattern, had seizures beginning at 13 months. Two individuals with SCN2A mutations were identified with seizures in later life. In each family a single individual with infantile seizures was mutation negative and thus represented phenocopies. This study extends the age range of presentation of BFNIS, confirms that neonatal and early infantile onsets are characteristic, and emphasizes the role of molecular diagnosis to confirm the etiology.Keywords
This publication has 7 references indexed in Scilit:
- The spectrum of benign infantile seizuresEpilepsy Research, 2006
- A Novel SCN2A Mutation in Family with Benign Familial Infantile SeizuresEpilepsia, 2006
- Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathyAnnals of Neurology, 2004
- Sodium-channel defects in benign familial neonatal-infantile seizuresThe Lancet, 2002
- Benign Familial Infantile Convulsions: Mapping of a Novel Locus on Chromosome 2q24 and Evidence for Genetic HeterogeneityAmerican Journal of Human Genetics, 2001
- Benign convulsions with mild gastroenteritis: a report of 10 recent cases detailing clinical varietiesBrain & Development, 1995
- Benign familial neonatal‐infantile seizuresAmerican Journal of Medical Genetics, 1983