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Type: Journal article
Title: Sodium-channel defects in benign familial neonatal-infantile seizures
Author: Heron, S.
Crossland, K.
Andermann, E.
Phillips, H.
Hall, A.
Bleasel, A.
Shevell, M.
Mercho, S.
Seni, M.
Guiot, M.
Mulley, J.
Berkovic, S.
Scheffer, I.
Citation: Lancet, 2002; 360(9336):851-852
Publisher: Lancet Ltd
Issue Date: 2002
ISSN: 0140-6736
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.
RMID: 0020020832
DOI: 10.1016/S0140-6736(02)09968-3
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Appears in Collections:Molecular and Biomedical Science publications

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