DisGeNET - a database of gene-disease associations

CACNA1A, calcium voltage-gated channel subunit alpha1 A, 773

N. diseases: 320; N. variants: 106

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs886037944

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.800

GeneticVariation

UNIPROT

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

27476654

2016

dbSNP:

rs886037944

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.800

GeneticVariation

UNIPROT

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

27250579

2016

dbSNP:

rs886037945

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.800

GeneticVariation

UNIPROT

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

27250579

2016

dbSNP:

rs886037945

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.800

GeneticVariation

UNIPROT

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

27476654

2016

dbSNP:

rs886037946

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.800

GeneticVariation

UNIPROT

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

27250579

2016

dbSNP:

rs886037946

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.800

GeneticVariation

UNIPROT

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

27476654

2016

dbSNP:

rs886037945

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.800

CausalMutation

CLINVAR

De novo mutations in epileptic encephalopathies.

23934111

2013

dbSNP:

rs886037944

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.800

CausalMutation

CLINVAR

dbSNP:

rs886037946

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.800

CausalMutation

CLINVAR

dbSNP:

rs121908212

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.700

CausalMutation

CLINVAR

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

28169007

2017

dbSNP:

rs121908247

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.700

CausalMutation

CLINVAR

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

28742085

2017

dbSNP:

rs1555737113

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.700

GeneticVariation

CLINVAR

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

26795593

2016

dbSNP:

rs1568440440

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.700

CausalMutation

CLINVAR

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

27066515

2016

dbSNP:

rs1568457080

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.700

CausalMutation

CLINVAR

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

27250579

2016

dbSNP:

rs1568457080

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.700

CausalMutation

CLINVAR

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

25735478

2015

dbSNP:

rs121908212

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.700

CausalMutation

CLINVAR

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

25274239

2014

dbSNP:

rs121908212

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.700

CausalMutation

CLINVAR

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

24270521

2014

dbSNP:

rs1568457080

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.700

CausalMutation

CLINVAR

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

24420976

2014

dbSNP:

rs1568473233

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.700

CausalMutation

CLINVAR

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

23071170

2012

dbSNP:

rs1568473233

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.700

CausalMutation

CLINVAR

A novel de novo pathogenic mutation in the CACNA1A gene.

23038654

2012

dbSNP:

rs1568457080

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.700

CausalMutation

CLINVAR

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

19486177

2009

dbSNP:

rs121908247

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.700

CausalMutation

CLINVAR

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

16325861

2006

dbSNP:

rs121908212

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.700

CausalMutation

CLINVAR

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

11971066

2002

dbSNP:

rs121908212

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.700

CausalMutation

CLINVAR

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

11814735

2002

dbSNP:

rs121908212

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C4310716
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42

0.700

CausalMutation

CLINVAR

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

10024348

1999