ORBi: Singh N. A. - A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

Reference : A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.


	Document type :	Scientific journals : Article
	Discipline(s) :	Life sciences : Genetics & genetic processes
	To cite this reference:	http://hdl.handle.net/2268/102177

Title :	A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
Language :	English
Author, co-author :	Singh, N. A. [> > > >]
	Charlier, Carole [> > > >]
	Stauffer, D. [> > > >]
	DuPont, B. R. [> > > >]
	Leach, R. J. [> > > >]
	Melis, R. [> > > >]
	Ronen, G. M. [> > > >]
	Bjerre, I. [> > > >]
	Quattlebaum, T. [> > > >]
	Murphy, J. V. [> > > >]
	McHarg, M. L. [> > > >]
	Gagnon, D. [> > > >]
	Rosales, T. O. [> > > >]
	Peiffer, A. [> > > >]
	Anderson, V. E. [> > > >]
	Leppert, M. [ > > ]
Publication date :	1998
Journal title :	Nature Genetics
Publisher :	Nature Publishing Group
Volume :	18
Issue/season :	1
Pages :	25-9
Audience :	International
ISSN :	1061-4036
e-ISSN :	1546-1718
City :	New York
Country :	NY
Keywords :	[en] Amino Acid Sequence ; Base Sequence ; Cell Line, Transformed ; Chromosome Deletion ; Chromosomes, Human, Pair 20 ; DNA, Complementary ; Epilepsy/genetics ; Female ; Humans ; Infant, Newborn ; KCNQ2 Potassium Channel ; Male ; Molecular Sequence Data ; Mutation ; Pedigree ; Potassium Channels/genetics ; Potassium Channels, Voltage-Gated ; Sequence Homology, Amino Acid
Abstract :	[en] Idiopathic generalized epilepsies account for about 40% of epilepsy up to age 40 and commonly have a genetic basis. One type is benign familial neonatal convulsions (BFNC), a dominantly inherited disorder of newborns. We have identified a sub-microscopic deletion of chromosome 20q13.3 that co-segregates with seizures in a BFNC family. Characterization of cDNAs spanning the deleted region identified one encoding a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KQT-like class of potassium channels. Five other BFNC probands were shown to have KCNQ2 mutations, including two transmembrane missense mutations, two frameshifts and one splice-site mutation. This finding in BFNC provides additional evidence that defects in potassium channels are involved in the mammalian epilepsy phenotype.
Permalink :	http://hdl.handle.net/2268/102177
DOI :	10.1038/ng0198-25

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