Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/43972
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Type: Journal article
Title: SCN2A mutations and benign familial neonatal-infantile seizures: The phenotypic spectrum
Author: Herlenius, E.
Heron, S.
Grinton, B.
Keay, D.
Scheffer, I.
Mulley, J.
Berkovic, S.
Citation: Epilepsia, 2007; 48(6):1138-1142
Publisher: Blackwell Publishing Inc
Issue Date: 2007
ISSN: 0013-9580
1528-1167
Statement of
Responsibility: 
Eric Herlenius, Sarah E. Heron, Bronwyn E. Grinton, Deborah Keay, Ingrid E. Scheffer, John C. Mulley, Samuel F. Berkovic
Abstract: Summary: Mutations of the sodium channel subunit gene SCN2A have been described in families with benign familial neonatal-infantile seizure (BFNIS). We describe two large families with BFNIS and novel SCN2A mutations. The families had 12 and 9 affected individuals, respectively, with phenotypes consistent with BFNIS. Two mutations were discovered in SCN2A (E430Q; I1596S). Both families had individuals with neonatal onset but the typical age of onset was in the early infantile period (mean 3.0 months). One mutation positive individual, with an otherwise typical clinical pattern, had seizures beginning at 13 months. Two individuals with SCN2A mutations were identified with seizures in later life. In each family a single individual with infantile seizures was mutation negative and thus represented phenocopies. This study extends the age range of presentation of BFNIS, confirms that neonatal and early infantile onsets are characteristic, and emphasizes the role of molecular diagnosis to confirm the etiology.
Keywords: Humans; Epilepsy, Benign Neonatal; Sodium Channels; Nerve Tissue Proteins; Electroencephalography; Heterozygote Detection; Pedigree; DNA Mutational Analysis; Family; Age Factors; Age of Onset; Phenotype; Mutation; Adolescent; Adult; Aged; Aged, 80 and over; Middle Aged; Child; Infant; Australia; Sweden; NAV1.2 Voltage-Gated Sodium Channel
Description: The definitive version is available at www.blackwell-synergy.com
RMID: 0020070972
DOI: 10.1111/j.1528-1167.2007.01049.x
Appears in Collections:Molecular and Biomedical Science publications

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