Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7737
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dc.contributor.authorPhillips, H.en
dc.contributor.authorScheffer, I.en
dc.contributor.authorBerkovic, S.en
dc.contributor.authorHollway, G.en
dc.contributor.authorSutherland, G.en
dc.contributor.authorMulley, J.en
dc.date.issued1995en
dc.identifier.citationNature Genetics, 1995; 10(1):117-118en
dc.identifier.issn1061-4036en
dc.identifier.issn1546-1718en
dc.identifier.urihttp://hdl.handle.net/2440/7737-
dc.descriptionCopyright © 1995 Nature Publishing Groupen
dc.description.abstractThe epilepsies comprise a group of syndromes that are divided into generalized and partial (focal) types. Familial occurrence has long been recognized but progress in mapping epilepsy genes has been slow except for rare cases where the inheritance is easily determined from classical genetic studies. Linkage is established for three generalized syndromes: the EBN1 and EBN2 genes for benign familial neonatal convulsions (BFNC) map to chromosomes 20q and 8q (refs 2-5), the EPM1 gene for Unverricht-Lundborg disease maps to 21q (ref. 6) and the gene for the northern epilepsy syndrome maps to 8p (ref. 7). A claim for linkage of the EJM1 gene for the common generalized syndrome of juvenile myoclonic epilepsy to 6p is currently in dispute. Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) was recently described in five families. We now report the chromosomal assignment, to 20q13.2, for the gene for ADNFLE in one large Australian kindred with 27 affected individuals spanning six generations.en
dc.description.statementofresponsibilityH.A. Phillips, I.E. Scheffer, S.F. Berkovic, G.E. Hollway, G.R. Sutherland & J.C. Mulleyen
dc.language.isoenen
dc.publisherNature Publishingen
dc.subjectChromosomes, Human, Pair 20; Humans; Epilepsy, Frontal Lobe; Epilepsy, Generalized; Receptors, Nicotinic; Genetic Markers; Pedigree; Female; Male; Genetic Linkageen
dc.titleLocalization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to 20q13.2en
dc.typeJournal articleen
dc.identifier.rmid0030005430en
dc.identifier.doi10.1038/ng0595-117en
dc.identifier.pubid69436-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
Appears in Collections:Paediatrics publications

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