Variant: rs121908215 

    present in Gene: CACNA1A
    present in Chromosome: 19
    Position on Chromosome: 13359707
    Alleles of this Variant: C/T

rs121908215 in CACNA1A gene and Episodic ataxia type 2 (disorder) PMID 10408533 1999 A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.

PMID 11176968 2001 Missense CACNA1A mutation causing episodic ataxia type 2.

PMID 10987655 1999 Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 15173248 2004 Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.

PMID 18602318 2009 Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.

PMID 19232643 2009 Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.

PMID 9302278 1997 Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.

PMID 20129625 2010 Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

PMID 14718690 2004 Clinical spectrum of episodic ataxia type 2.

PMID 8898206 1996 Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.

PMID 15293273 2004 Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.

PMID 12420090 2002 Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.

PMID 21696515 2011 New mutation of CACNA1A gene in episodic ataxia type 2.

PMID 11723274 2001 Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.

rs121908215 in CACNA1A gene and Spinocerebellar Ataxia Type 6 (disorder) PMID 24418350 2014 EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.

PMID 8988170 1997 Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

PMID 9345107 1997 Progressive ataxia due to a missense mutation in a calcium-channel gene.

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 20682717 2010 A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

PMID 29053796 2017 Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.

PMID 9302278 1997 Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.

PMID 16325861 2006 Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.