Variant: rs121908211 

    present in Gene: CACNA1A
    present in Chromosome: 19
    Position on Chromosome: 13371744
    Alleles of this Variant: C/T

rs121908211 in CACNA1A gene and Hemiplegic migraine, familial type 1 PMID 10408532 1999 Genetic heterogeneity in Italian families with familial hemiplegic migraine.

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 18400034 2008 CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.

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

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

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

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

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 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.