Variant: rs121908212 

    present in Gene: CACNA1A
    present in Chromosome: 19
    Position on Chromosome: 13303877
    Alleles of this Variant: G/A

rs121908212 in CACNA1A gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 PMID 25274239 2014 Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1.

PMID 11971066 2002 Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene.

PMID 28169007 2017 Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report.

PMID 11814735 2002 Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia.

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

PMID 10024348 1999 Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine.

PMID 24270521 2014 Rare clinical findings in a patient with sporadic hemiplegic migraine: FDG-PET provides diminished brain metabolism at 10-year follow-up.

PMID 9488686 1998 Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics.

rs121908212 in CACNA1A gene and Episodic ataxia type 2 (disorder) PMID 24270521 2014 Rare clinical findings in a patient with sporadic hemiplegic migraine: FDG-PET provides diminished brain metabolism at 10-year follow-up.

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 25274239 2014 Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1.

PMID 28169007 2017 Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report.

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

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

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

PMID 9488686 1998 Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics.

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

PMID 14718690 2004 Clinical spectrum of episodic ataxia type 2.

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

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

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

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

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

PMID 10024348 1999 Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine.

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

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

PMID 10408533 1999 A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.

PMID 11971066 2002 Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene.

PMID 11814735 2002 Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia.

rs121908212 in CACNA1A gene and Hemiplegic migraine, familial type 1 PMID 18400034 2008 CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 11439943 2001 The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.

PMID 11409427 2001 Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.

PMID 24836863 2014 Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.

PMID 10408532 1999 Genetic heterogeneity in Italian families with familial hemiplegic migraine.

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

PMID 28900389 2017 Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family.

PMID 26716990 2015 A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.

PMID 15032980 2004 A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine.