Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p

Jodice, Carla; Mantuano, Elide; Veneziano, Liana; Trettel, Flavia; Sabbadini, G.; Calandriello, L.; Francia, Ada; Spadaro, M.; Pierelli, Francesco; Salvi, Fabrizio; Ophoff, R.A.; R. Frants, Rune; Frontali, Marina

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

Published in Human Molecular Genetics • Oct 1, 1997

Authors:

Carla Jodice

Elide Mantuano

Liana Veneziano

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...

Subject

Biology

Genetics

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