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Lancet. 2002 Sep 14;360(9336):851-2.

Sodium-channel defects in benign familial neonatal-infantile seizures.

Author information

1
Department of Laboratory Genetics, Women's and Children's Hospital, North Adelaide, South Australia, Australia. sheron@bionomics.com.au

Erratum in

  • Lancet 2002 Nov 9;360(9344):1520.

Abstract

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
DOI:
10.1016/S0140-6736(02)09968-3
[Indexed for MEDLINE]

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