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- W2081841708 abstract "The list of inherited channelopathies is growing. In the past five years, a number of human disorders have been described in which mutations within voltage-dependent ion channels are the underlying molecular defect. Mutations in a Na+ channel result in hyperkalaemic periodic paralysis, paramyotonia congenita and myotonia fluctuans; hypokalaemic periodic paralysis is caused by mutations in the α1-subunit of the skeletal muscle Ca2+ channel; Cl– channel disorders produce myotonia congenita and generalized myotonia; and episodic ataxia type-1 (with myokymia) is produced by point mutations in a K+ channel. Recently, three other human diseases were added to the list of ion-channel disorders, all caused by mutations in the brain-specific P/Q-type Ca2+ channel (P/Q channel) α1a-subunit gene. Missense mutations were found in patients with familial hemiplegic migraine (FHM), truncating mutations were associated with episodic ataxia type 2 (EA2), and expanded trinucleotide (CAG)21–27 repeats were observed in patients with autosomal dominant cerebellar ataxia (SCA6). Furthermore, mutations were identified in the mouse Ca2+ channel α1a-subunit gene of tottering mice mutants, resulting in absence epilepsy. This article surveys the diversity of Ca2+ channels and provides an overview of the mutations observed in the Ca2+ channel α1a-subunit gene in human and mouse inherited channelopathies. Elucidation of the P/Q channel pathway will improve diagnosis and may provide new targets for the development of specific prophylactic therapy for migraine and other (paroxysmal) cerebral disorders." @default.
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- W2081841708 date "1998-04-01" @default.
- W2081841708 modified "2023-10-10" @default.
- W2081841708 title "P/Q-type Ca2+ channel defects in migraine, ataxia and epilepsy" @default.
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- W2081841708 doi "https://doi.org/10.1016/s0165-6147(98)01182-1" @default.
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