Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 Biomarker disease GENOMICS_ENGLAND Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome. 29366381 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 GeneticVariation disease BEFREE While classically thought to act at sodium channels, lamotrigine also modulates the activity of the P/Q-type calcium channel, making it a candidate for precision therapy for patients with epileptic encephalopathy due to CACNA1A pathogenic variants. 27212419 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 GeneticVariation disease BEFREE Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. 27250579 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 Biomarker disease BEFREE CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 CausalMutation disease CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 GeneticVariation disease CLINVAR