Reference : A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/102177
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
English
Singh, N. A. [> > > >]
Charlier, Carole mailto [> > > >]
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. [ > > ]
1998
Nature Genetics
Nature Publishing Group
18
1
25-9
Yes (verified by ORBi)
International
1061-4036
1546-1718
New York
NY
[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
[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.
http://hdl.handle.net/2268/102177
10.1038/ng0198-25

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