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Article (Scientific journals)
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
Singh, N. A.; Charlier, Carole; Stauffer, D. et al.
1998In Nature Genetics, 18 (1), p. 25-9
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Keywords :
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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Singh, N. A.
Charlier, Carole  
Stauffer, D.
DuPont, Barbara 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.
More authors (6 more) Less
Language :
English
Title :
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
Publication date :
1998
Journal title :
Nature Genetics
ISSN :
1061-4036
eISSN :
1546-1718
Publisher :
Nature Publishing Group, New York, United States - New York
Volume :
18
Issue :
1
Pages :
25-9
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 09 November 2011

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