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Titolo:
Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability
Autore:
Watanabe, H; Nagata, E; Kosakai, A; Nakamura, M; Yokoyama, M; Tanaka, K; Sasai, H;
Indirizzi:
Japan Tobacco Inc, Pharmaceut Frontier Res Labs, Kanazawa Ku, Kanagawa 2360004, Japan Japan Tobacco Inc Kanagawa Japan 2360004 awa Ku, Kanagawa 2360004, Japan Keio Univ, Sch Med, Dept Neurol, Tokyo, Japan Keio Univ Tokyo JapanKeio Univ, Sch Med, Dept Neurol, Tokyo, Japan
Titolo Testata:
JOURNAL OF NEUROCHEMISTRY
fascicolo: 1, volume: 75, anno: 2000,
pagine: 28 - 33
SICI:
0022-3042(200007)75:1<28:DOTEKG>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL NEONATAL CONVULSIONS; POTASSIUM CHANNEL GENE; IDIOPATHIC EPILEPSY; MUTATION; SEIZURES; LOCUS; CELLS; HETEROGENEITY; CHROMOSOME-8Q; EXPRESSION;
Keywords:
benign familial neonatal convulsion; epilepsy; KCMQ2; M-channel; knockout mouse;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Sasai, H Japan Tobacco Inc, Pharmaceut Frontier Res Labs, Kanazawa Ku, 13-2 Fukuura1 Chome, Kanagawa 2360004, Japan Japan Tobacco Inc 13-2 Fukuura 1 Chome Kanagawa Japan 2360004 an
Citazione:
H. Watanabe et al., "Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability", J NEUROCHEM, 75(1), 2000, pp. 28-33

Abstract

Benign familiar neonatal convulsion (BFNC) is a common idiopathic epilepsywith autosomal dominant inheritance. Recently, two novel voltage-dependentpotassium channel genes, KCNQ2 and KCNQ3, were identified by positional cloning as being responsible for BFNG. Heterotetramers of the products of these genes form M-channels and regulate the threshold of electrical excitability of neurons. We disrupted the mouse KCNQ2 gene via gene targeting to study the relationship between KCNQ2 and epilepsy. Homozygous pups (KCNQ2 -/-)died within a few hours after birth owing to pulmonary atelectasis that was not due to the status of epileptic seizures, although their development was morphologically normal. Heterozygous mice had decreased expression of KCNQ2 and showed hypersensitivity to pentylenetetrazole, an inducer of seizure. These data indicate that the decreased expression of KCNQ2 might cause ahyperexcitability of the CNS, which accounts for the mechanism of BFNC.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/07/20 alle ore 18:15:43