Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.140 GeneticVariation group BEFREE Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. 31468518 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.140 GeneticVariation group BEFREE This patient was the most severe phenotype of CACNA1A-related early-onset encephalopathy among previous reports. 28927557 2018
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.140 Biomarker group BEFREE Case description We report on the emergency personalized treatment protocol used in an 11 year-old girl with CACNA1A-related encephalopathy for the management of acute attacks of headache, hemiconvulsions and hemiplegia with coma. 27651281 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.140 GeneticVariation group BEFREE Our results provide definitive evidence that de novo mutations in SLC1A2 and CACNA1A cause specific EEs and expand the compendium of clinically relevant genotypes for GABRB3. 27476654 2016
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.140 Biomarker group HPO