Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085

2017

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654

2016

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174

2016

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. 25758715

2015

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR The International Classification of Headache Disorders, 3rd edition (beta version). 23771276

2013

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine. 23831250

2013

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. 23441182

2013

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS. 22249839

2012

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil. 21183743

2011

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation. 19811514

2010

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717

2010

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR CaV2.1 channelopathies. 20204399

2010

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. 20156848

2010

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation. 20097664

2010

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration. 20233618

2010

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 20129625

2010

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings. 19484318

2009

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR Stepwise developmental regression associated with novel CACNA1A mutation. 18940563

2008

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR Large CACNA1A deletion in a family with episodic ataxia type 2. 18541804

2008

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood. 18498393

2008

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR The genetic spectrum of a population-based sample of familial hemiplegic migraine. 17142831

2007

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR Migraine: gene mutations and functional consequences. 17495624

2007

dbSNP: rs1555756091
rs1555756091
TA 0.700 CausalMutation CLINVAR Primary episodic ataxias: diagnosis, pathogenesis and treatment. 17575281

2007