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https://hdl.handle.net/2440/28183
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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: | The Lancet, 2002; 360(9336):851-852 |
Publisher: | Lancet Ltd |
Issue Date: | 2002 |
ISSN: | 0140-6736 1474-547X |
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. |
DOI: | 10.1016/S0140-6736(02)09968-3 |
Published version: | http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(02)09968-3/abstract |
Appears in Collections: | Aurora harvest 6 Molecular and Biomedical Science publications |
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