Sodium-channel defects in benign familial neonatal-infantile seizures
Date
2002
Authors
Heron, S.
Crossland, K.
Andermann, E.
Phillips, H.
Hall, A.
Bleasel, A.
Shevell, M.
Mercho, S.
Seni, M.
Guiot, M.
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Journal article
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The Lancet, 2002; 360(9336):851-852
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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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Copyright © 2009 Elsevier Limited. All rights reserved.