- Erratum in:
- Lancet 2002 Nov 9;360(9344):1520.
- Comment in:
-
Lancet. 2003 Apr 12;361(9365):1238-9.
Sodium-channel defects in benign familial neonatal-infantile seizures.
Heron SE,
Crossland KM,
Andermann E,
Phillips HA,
Hall AJ,
Bleasel A,
Shevell M,
Mercho S,
Seni MH,
Guiot MC,
Mulley JC,
Berkovic SF,
Scheffer IE.
Department of Laboratory Genetics, Women's and Children's Hospital, North Adelaide, South Australia, Australia. sheron@bionomics.com.au
Ion-channel gene defects are associated with a range of paroxysmal disorders, including several monogenic epilepsy syndromes. Two autosomal dominant disorders present in the first year of life: benign familial neonatal seizures, which is associated with potassium-channel gene defects; and benign familial infantile seizures, for which no genes have been identified. Here, we describe a clinically intermediate variant, benign familial neonatal-infantile seizures, with mutations in the sodium-channel subunit gene SCN2A. This clinico-molecular correlation defines a new benign familial epilepsy syndrome beginning in early infancy, an age at which seizure disorders frequently have a sombre prognosis.
PMID: 12243921 [PubMed - indexed for MEDLINE]