Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037944
rs886037944
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		G 0.800 CausalMutation CLINVAR
dbSNP: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		T 0.800 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
dbSNP: rs886037946
rs886037946
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1064794261
rs1064794261
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121908212
rs121908212
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1. 25274239 2014
dbSNP: rs121908212
rs121908212
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 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
rs121908212
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report. 28169007 2017
dbSNP: rs121908212
rs121908212
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine. 10024348 1999
dbSNP: rs121908212
rs121908212
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206 1996
dbSNP: rs121908212
rs121908212
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 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
rs121908212
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 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: rs121908212
rs121908212
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics. 9488686 1998
dbSNP: rs121908247
rs121908247
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		T 0.700 CausalMutation CLINVAR Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 16325861 2006
dbSNP: rs121908247
rs121908247
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		T 0.700 CausalMutation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085 2017
dbSNP: rs121909324
rs121909324
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1272886269
rs1272886269
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555737113
rs1555737113
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		T 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
dbSNP: rs1555743942
rs1555743942
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555755909
rs1555755909
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555756130
rs1555756130
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555756461
rs1555756461
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		GT 0.700 CausalMutation CLINVAR
dbSNP: rs1555756737
rs1555756737
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555757432
rs1555757432
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555757523
rs1555757523
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4310716
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		C 0.700 CausalMutation CLINVAR