A potassium channel mutation in neonatal human epilepsy.
Science
; 279(5349): 403-6, 1998 Jan 16.
Article
em En
| MEDLINE
| ID: mdl-9430594
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Canais de Potássio
/
Canais de Potássio de Abertura Dependente da Tensão da Membrana
/
Epilepsia
Limite:
Animals
/
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
1998
Tipo de documento:
Article