Gene: CACNA1A

Alternate names for this Gene: APCA|BI|CACNL1A4|CAV2.1|DEE42|EA2|EIEE42|FHM|HPCA|MHP|MHP1|SCA6

Gene Summary: Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.13

Description of this Gene: calcium voltage-gated channel subunit alpha1 A

Type of Gene: protein-coding

rs121909323 in CACNA1A gene and Attention deficit hyperactivity disorder PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

rs121909323 in CACNA1A gene and Autistic Disorder PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

rs121909323 in CACNA1A gene and Downbeat nystagmus PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

rs1057520918 in CACNA1A gene and Dysmorphic features PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

PMID 20233618 2010 A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.

PMID 20156848 2010 Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.

PMID 16595610 2006 C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.

PMID 23771276 2013 The International Classification of Headache Disorders, 3rd edition (beta version).

PMID 23441182 2013 Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.

PMID 20204399 2010 CaV2.1 channelopathies.

PMID 19811514 2010 Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.

PMID 16043807 2005 New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.

PMID 21183743 2011 Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.

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

PMID 22249839 2012 Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

PMID 1564484 1992 Familial paroxysmal ataxia: report of a family.

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

PMID 15483044 2004 Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.

PMID 12707077 2003 Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.

PMID 20097664 2010 Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.

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

PMID 18498393 2008 CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.

PMID 18940563 2008 Stepwise developmental regression associated with novel CACNA1A mutation.

PMID 15300451 2004 Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.

PMID 19484318 2009 The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.

PMID 18541804 2008 Large CACNA1A deletion in a family with episodic ataxia type 2.

PMID 17575281 2007 Primary episodic ataxias: diagnosis, pathogenesis and treatment.

PMID 11564488 2001 Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.

PMID 17142831 2007 The genetic spectrum of a population-based sample of familial hemiplegic migraine.

PMID 15710862 2005 Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.

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

PMID 17495624 2007 Migraine: gene mutations and functional consequences.

PMID 9879686 1998 Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.

PMID 11179022 2001 Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 23831250 2013 Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.

PMID 9005860 1997 Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.

PMID 9436730 1998 Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.

PMID 14718690 2004 Clinical spectrum of episodic ataxia type 2.

PMID 25758715 2015 Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

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

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

PMID 26814174 2016 Eye movement disorders are an early manifestation of CACNA1A mutations in children.

PMID 9559993 1998 SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar 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 3358708 1988 Magnetic resonance imaging in familial paroxysmal ataxia.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 28742085 2017 Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

PMID 9403487 1997 Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.

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.

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

PMID 28742085 2017 Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 27066515 2016 Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.

PMID 10371528 1999 High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.

PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

PMID 27250579 2016 Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.

PMID 24420976 2014 Rebound upbeat nystagmus after lateral gaze in episodic ataxia type 2.

PMID 19486177 2009 CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.

PMID 23038654 2012 A novel de novo pathogenic mutation in the CACNA1A gene.

PMID 23071170 2012 Clinical reasoning: a middle-aged man with episodes of gait imbalance and a newly found genetic mutation.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs11085835 in CACNA1A gene and Endometriosis PMID 28881265 2017 New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study.

rs121909323 in CACNA1A gene and Epileptic encephalopathy PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

rs121909323 in CACNA1A gene and Episodic Ataxia PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

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.

PMID 11176968 2001 The Glu 1757 Lys missense mutation is likely to be pathogenic, causing episodic ataxia within a family whose phenotype is indistinguishable from EA2 except for a slightly later age of onset.

PMID 15293273 2004 We also tested the direct effect of acetazolamide on both wild-type and H1736L mutated P/Q-type channels and did not observe any direct action on channel properties of this pharmacological agent used to treat EA2 patients.

PMID 18602318 2009 We describe EA2 with unusual features in a father and daughter with a novel CACNA1A mutation coding for Y248C.

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

PMID 28742085 2017 Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

PMID 15452324 2004 Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 27066515 2016 Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.

PMID 10371528 1999 High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.

PMID 24420976 2014 Rebound upbeat nystagmus after lateral gaze in episodic ataxia type 2.

PMID 27250579 2016 Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.

PMID 19486177 2009 CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.

PMID 23071170 2012 Clinical reasoning: a middle-aged man with episodes of gait imbalance and a newly found genetic mutation.

PMID 23038654 2012 A novel de novo pathogenic mutation in the CACNA1A gene.

rs4926244 in CACNA1A gene and Exfoliation Syndrome PMID 25706626 2015 We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10(-11)).

rs121909323 in CACNA1A gene and Febrile Convulsions PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

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.

PMID 11409427 2001 We conclude that the novel S218L mutation in the CACNA1A calcium channel subunit gene is involved in FHM and delayed fatal cerebral edema and coma after minor head trauma.

rs16042 in CACNA1A gene and Hypercholesterolemia, Familial PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs786200963 in CACNA1A gene and Learning difficulties PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

rs121909323 in CACNA1A gene and Mental impairment PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

rs786200963 in CACNA1A gene and Mild Mental Retardation PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

rs1131691712 in CACNA1A gene and Movement Disorders PMID 15710862 2005 Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.

PMID 15300451 2004 Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.

PMID 16595610 2006 C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.

PMID 11179022 2001 Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.

PMID 18498393 2008 CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.

PMID 12707077 2003 Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.

PMID 11564488 2001 Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.

PMID 16043807 2005 New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.

PMID 1564484 1992 Familial paroxysmal ataxia: report of a family.

PMID 28742085 2017 Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

PMID 3358708 1988 Magnetic resonance imaging in familial paroxysmal ataxia.

PMID 17495624 2007 Migraine: gene mutations and functional consequences.

PMID 20204399 2010 CaV2.1 channelopathies.

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

PMID 17575281 2007 Primary episodic ataxias: diagnosis, pathogenesis and treatment.

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

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

PMID 17142831 2007 The genetic spectrum of a population-based sample of familial hemiplegic migraine.

PMID 15483044 2004 Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.

PMID 26814174 2016 Eye movement disorders are an early manifestation of CACNA1A mutations in children.

PMID 14718690 2004 Clinical spectrum of episodic ataxia type 2.

PMID 23831250 2013 Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.

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

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 9005860 1997 Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.

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

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 23441182 2013 Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.

PMID 23771276 2013 The International Classification of Headache Disorders, 3rd edition (beta version).

PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

PMID 18541804 2008 Large CACNA1A deletion in a family with episodic ataxia type 2.

PMID 25758715 2015 Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

PMID 21183743 2011 Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.

PMID 20233618 2010 A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.

PMID 22249839 2012 Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

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

PMID 20097664 2010 Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.

PMID 9559993 1998 SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.

PMID 20156848 2010 Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.

PMID 19811514 2010 Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.

PMID 18940563 2008 Stepwise developmental regression associated with novel CACNA1A mutation.

PMID 19484318 2009 The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.

PMID 9403487 1997 Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.

PMID 9436730 1998 Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.

PMID 9879686 1998 Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.

rs1318353774 in CACNA1A gene and Multiple congenital anomalies PMID 11179022 2001 Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.

PMID 11564488 2001 Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.

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 9403487 1997 Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.

PMID 9559993 1998 SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 15483044 2004 Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.

PMID 26814174 2016 Eye movement disorders are an early manifestation of CACNA1A mutations in children.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 23771276 2013 The International Classification of Headache Disorders, 3rd edition (beta version).

PMID 9436730 1998 Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.

PMID 15710862 2005 Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.

PMID 28742085 2017 Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

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

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

PMID 15300451 2004 Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.

PMID 9005860 1997 Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.

PMID 25758715 2015 Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

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

PMID 12707077 2003 Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.

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

PMID 17575281 2007 Primary episodic ataxias: diagnosis, pathogenesis and treatment.

PMID 20156848 2010 Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.

PMID 9879686 1998 Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.

PMID 23831250 2013 Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.

PMID 18940563 2008 Stepwise developmental regression associated with novel CACNA1A mutation.

PMID 16595610 2006 C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.

PMID 3358708 1988 Magnetic resonance imaging in familial paroxysmal ataxia.

PMID 18541804 2008 Large CACNA1A deletion in a family with episodic ataxia type 2.

PMID 18498393 2008 CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.

PMID 19484318 2009 The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.

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

PMID 17495624 2007 Migraine: gene mutations and functional consequences.

PMID 23441182 2013 Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.

PMID 17142831 2007 The genetic spectrum of a population-based sample of familial hemiplegic migraine.

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

PMID 19811514 2010 Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.

PMID 16043807 2005 New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.

PMID 14718690 2004 Clinical spectrum of episodic ataxia type 2.

PMID 1564484 1992 Familial paroxysmal ataxia: report of a family.

PMID 20233618 2010 A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.

PMID 20204399 2010 CaV2.1 channelopathies.

PMID 20097664 2010 Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.

PMID 22249839 2012 Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

PMID 21183743 2011 Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.

rs1057520918 in CACNA1A gene and Muscle hypotonia PMID 8988170 1997 Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

PMID 26814174 2016 Eye movement disorders are an early manifestation of CACNA1A mutations in children.

PMID 28742085 2017 Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 18940563 2008 Stepwise developmental regression associated with novel CACNA1A mutation.

PMID 3358708 1988 Magnetic resonance imaging in familial paroxysmal ataxia.

PMID 22249839 2012 Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

PMID 23441182 2013 Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.

PMID 18541804 2008 Large CACNA1A deletion in a family with episodic ataxia type 2.

PMID 19811514 2010 Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.

PMID 23831250 2013 Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.

PMID 25758715 2015 Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

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

PMID 20204399 2010 CaV2.1 channelopathies.

PMID 18498393 2008 CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.

PMID 23771276 2013 The International Classification of Headache Disorders, 3rd edition (beta version).

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 20097664 2010 Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.

PMID 17142831 2007 The genetic spectrum of a population-based sample of 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 20129625 2010 Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

PMID 17575281 2007 Primary episodic ataxias: diagnosis, pathogenesis and treatment.

PMID 20156848 2010 Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.

PMID 20233618 2010 A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.

PMID 21183743 2011 Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.

PMID 9559993 1998 SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.

PMID 9403487 1997 Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.

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

PMID 9005860 1997 Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.

PMID 19484318 2009 The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.

PMID 9436730 1998 Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.

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 17495624 2007 Migraine: gene mutations and functional consequences.

PMID 15483044 2004 Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.

PMID 15300451 2004 Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.

PMID 12707077 2003 Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.

PMID 9879686 1998 Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.

PMID 1564484 1992 Familial paroxysmal ataxia: report of a family.

PMID 15710862 2005 Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.

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

PMID 16043807 2005 New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.

PMID 14718690 2004 Clinical spectrum of episodic ataxia type 2.

PMID 11179022 2001 Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.

PMID 16595610 2006 C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.

PMID 11564488 2001 Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.

rs786200962 in CACNA1A gene and Poor school performance PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

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.