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|Title:||Sodium-channel defects in benign familial neonatal-infantile seizures|
|Citation:||Lancet, 2002; 360(9336):851-852|
|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.|
|Keywords:||Humans; Epilepsy, Benign Neonatal; Sodium Channels; Nerve Tissue Proteins; Follow-Up Studies; Amino Acid Substitution; Pedigree; DNA Mutational Analysis; Mutation; Polymorphism, Single-Stranded Conformational; Adolescent; Adult; Child; Child, Preschool; Infant; Infant, Newborn; Australia; Female; Male; NAV1.2 Voltage-Gated Sodium Channel|
|Rights:||Copyright © 2009 Elsevier Limited. All rights reserved.|
|Appears in Collections:||Molecular and Biomedical Science publications|
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