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dc.contributor.authorHeron, S.en
dc.contributor.authorCrossland, K.en
dc.contributor.authorAndermann, E.en
dc.contributor.authorPhillips, H.en
dc.contributor.authorHall, A.en
dc.contributor.authorBleasel, A.en
dc.contributor.authorShevell, M.en
dc.contributor.authorMercho, S.en
dc.contributor.authorSeni, M.en
dc.contributor.authorGuiot, M.en
dc.contributor.authorMulley, J.en
dc.contributor.authorBerkovic, S.en
dc.contributor.authorScheffer, I.en
dc.identifier.citationLancet, 2002; 360(9336):851-852en
dc.description.abstractIon-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.en
dc.publisherLancet Ltden
dc.rightsCopyright © 2009 Elsevier Limited. All rights reserved.en
dc.subjectHumans; 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 Channelen
dc.titleSodium-channel defects in benign familial neonatal-infantile seizuresen
dc.typeJournal articleen
pubs.library.collectionMolecular and Biomedical Science publicationsen
dc.identifier.orcidHeron, S. [0000-0001-8759-6748]en
Appears in Collections:Molecular and Biomedical Science publications

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