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Open Access Green as soon as Postprint is submitted to ZB.
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
Eur. J. Med. Genet. 57, 207-211 (2014)
Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1) are allelic disorders of the gene CACNA1A encoding the P/Q subunit of a voltage gated calcium channel. While SCA6 is related to repeat expansions affecting the C-terminal part of the protein, EA2 and FHM phenotypes are usually associated with nonsense and missense mutations leading to impaired channel properties. In three unrelated families with dominant cerebellar ataxia, symptoms cosegregated with CACNA1A missense mutations of evolutionary highly conserved amino acids (exchanges p.E668K, p.R583Q and p.D302N). To evaluate pathogenic effects, in silico, protein modeling analyses were performed which indicate structural alterations of the novel mutation p.E668K within the homologous domain 2 affecting CACNA1A protein function.The phenotype is characterised by a very slowly progressive ataxia, while ataxic episodes or migraine are uncommon. These findings enlarge the phenotypic spectrum of CACNA1A mutations.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Cacna1a ; Ea2 ; Fhm1 ; Sca6 ; Spinocerebellar Ataxia ; Ion Channel Gene Defects ; Molecule Dynamic Simulation; Familial Hemiplegic Migraine; Calcium-channel; Cerebellar-ataxia; Gene; Phenotypes; Symptoms; Type-2; Sca6
ISSN (print) / ISBN
1769-7212
e-ISSN
1729-7212
Quellenangaben
Volume: 57,
Issue: 5,
Pages: 207-211
Publisher
Elsevier
Publishing Place
Amsterdam
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)