Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy
Article Abstract:
Epilepsy has a large genetic component and is due to an electrical hyperexcitability in the central nervous system. Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy and is due to mutations in the KCNQ2 or KCNQ3 potassium channel genes. The complete complementary DNA of the human KCNQ3 K+ channel was cloned to determine its genomic structure, and two intronic CA nucleotide repeats were identified. KCNQ3 has similarities to KCNQ2 in being highly brain specific.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1998
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A constitutively open potassium channel formed by KCNQ1 and KCNE3
Article Abstract:
An unexpected effect on the gating of KCNQ1 of a protein with a single transmembrance domain has been revealed. This effect differs significantly from the effect of the structurally of the structurally related KCNE1 subunit. It is suggested that KCNQ1 and KCNE3 form the cAMP-activated potassium channel that is involved in cAMP-stimulated intestinal secretion of chloride ions, is reduced in cystic fibrosis and is pathologically stimulated in types of secretory diarrhoea.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 2000
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CIC-5 CI -channel disruption impairs endocytosis in a mouse model for Dent's disease
Article Abstract:
Research is presented describing how, by reducing apical proximal tubular endocytosis, the disruption of gene clcn5 causes proteinuria in mice. The loss of low-molecular weight proteins in urine causes an X-linked disorder known as Dent's disease.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 2000
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