Publication Date:
1998-02-07
Description:
Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy, with loci mapped to human chromosomes 20q13.3 and 8q24. By positional cloning, a potassium channel gene (KCNQ2) located on 20q13.3 was isolated and found to be expressed in brain. Expression of KCNQ2 in frog (Xenopus laevis) oocytes led to potassium-selective currents that activated slowly with depolarization. In a large pedigree with BFNC, a five-base pair insertion would delete more than 300 amino acids from the KCNQ2 carboxyl terminus. Expression of the mutant channel did not yield measurable currents. Thus, impairment of potassium-dependent repolarization is likely to cause this age-specific epileptic syndrome.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Biervert, C -- Schroeder, B C -- Kubisch, C -- Berkovic, S F -- Propping, P -- Jentsch, T J -- Steinlein, O K -- New York, N.Y. -- Science. 1998 Jan 16;279(5349):403-6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institute for Human Genetics, University of Bonn, Bonn, Germany.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/9430594" target="_blank"〉PubMed〈/a〉
Keywords:
Action Potentials
;
Amino Acid Sequence
;
Animals
;
Brain/metabolism
;
Chromosome Mapping
;
Chromosomes, Human, Pair 20
;
Cloning, Molecular
;
Epilepsy/*genetics/metabolism
;
Female
;
Frameshift Mutation
;
Humans
;
Infant, Newborn
;
KCNQ2 Potassium Channel
;
Male
;
Molecular Sequence Data
;
Mutagenesis, Insertional
;
Oocytes/metabolism
;
Open Reading Frames
;
Pedigree
;
Potassium/metabolism
;
Potassium Channels/chemistry/*genetics/metabolism
;
*Potassium Channels, Voltage-Gated
;
Xenopus laevis
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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