Sodium-channel defects in benign familial neonatal-infantile seizures

SE Heron, KM Crossland, E Andermann, HA Phillips… - The Lancet, 2002 - thelancet.com
SE Heron, KM Crossland, E Andermann, HA Phillips, AJ Hall, A Bleasel, M Shevell
The Lancet, 2002thelancet.com
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 …
Summary
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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