Sodium-channel defects in benign familial neonatal-infantile seizures - PubMed (original) (raw)

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

doi: 10.1016/S0140-6736(02)09968-3.

Kathryn M Crossland, Eva Andermann, Hilary A Phillips, Allison J Hall, Andrew Bleasel, Michael Shevell, Suha Mercho, Marie-Helene Seni, Marie-Christine Guiot, John C Mulley, Samuel F Berkovic, Ingrid E Scheffer

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Sodium-channel defects in benign familial neonatal-infantile seizures

Sarah E Heron et al. Lancet. 2002.

Erratum in

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.

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