Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report. 28169007 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 Biomarker disease GENOMICS_ENGLAND De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. 27066515 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 GeneticVariation disease UNIPROT Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. 27250579 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 GeneticVariation disease UNIPROT De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. 27250579 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 GeneticVariation disease CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR Rebound upbeat nystagmus after lateral gaze in episodic ataxia type 2. 24420976 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR Rare clinical findings in a patient with sporadic hemiplegic migraine: FDG-PET provides diminished brain metabolism at 10-year follow-up. 24270521 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1. 25274239 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR A novel de novo pathogenic mutation in the CACNA1A gene. 23038654 2012
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR Clinical reasoning: a middle-aged man with episodes of gait imbalance and a newly found genetic mutation. 23071170 2012
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2. 19486177 2009
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 Biomarker disease GENOMICS_ENGLAND Primary episodic ataxias: diagnosis, pathogenesis and treatment. 17575281 2007
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 16325861 2006
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene. 11971066 2002
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia. 11814735 2002
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. 10371528 1999
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine. 10024348 1999
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics. 9488686 1998
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation disease CLINVAR Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206 1996
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 Biomarker disease GENOMICS_ENGLAND Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206 1996