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

Heron S.E., Crossland K.M., Andermann E., Phillips H.A., Hall A.J., Bleasel A., Shevell M., Mercho S., Seni M.H., Guiot M.C., Mulley J.C., Berkovic S.F., Scheffer I.E.

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.

Lancet 360:851-852(2002) [PubMed] [Europe PMC]

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