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Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2.

Abstract：

:Premature stop codons in CACNA1A, which encodes the alpha(1A) subunit of neuronal P/Q-type (Ca(V)2.1) Ca(2+) channels, cause episodic ataxia type 2 (EA2). CACNA1A undergoes extensive alternative splicing, which contributes to the pharmacological and kinetic heterogeneity of Ca(V)2.1-mediated Ca(2+) currents. We identified three novel heterozygous stop codon mutations associated with EA2 in an alternately spliced exon (37A), which encodes part of an EF-hand motif required for Ca(2+)-dependent facilitation. One family had a C to G transversion (Y1854X). A dinucleotide deletion results in the same premature stop codon in a second family, and a further single nucleotide change leads to a different truncation (R1858X) in a de novo case of EA2. Expression studies of the Y1854X mutation revealed loss of Ca(V)2.1-mediated current. Because these mutations do not affect the alternate exon 37B, these findings reveal unexpected dependence of cerebellar function on intact exon 37A-containing Ca(V)2.1 channels.

journal_name

Neurobiol Dis

journal_title

Neurobiology of disease

authors

Graves TD,Imbrici P,Kors EE,Terwindt GM,Eunson LH,Frants RR,Haan J,Ferrari MD,Goadsby PJ,Hanna MG,van den Maagdenberg AM,Kullmann DM

doi

10.1016/j.nbd.2008.06.002

subject

Has Abstract

pub_date

2008-10-01 00:00:00

pages

10-5

issue

1

eissn

0969-9961

issn

1095-953X

pii

S0969-9961(08)00126-5

journal_volume

32

pub_type

杂志文章

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