Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.

C, Jodice; E, Mantuano; L, Veneziano; F, Trettel; G, Sabbadini; L, Calandriello; A, Francia; M, Spadaro; F, Pierelli; F, Salvi; RA, Ophoff; RR, Frants; M, Frontali

doi:10.1093/hmg/6.11.1973

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Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.

Shared by NobleBlocks on Oct 1, 1997 • 12:00 AM UTC

Authors:

Jodice C

Mantuano E

Veneziano L

Abstract

Point mutations of the CACNA1A gene coding for the alpha 1A voltage-dependent calcium channel subunit are responsible for familial hemiplegic migraine (FHM) and episodic ataxia type 2 (EA2). In addition, expansions of the CAG repeat motif at the 3' end of the gene, smaller than those responsible for...

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