Disease: Tonic - clonic seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.310 GeneticVariation disease BEFREE He presented at 4 years of age with generalized tonic clonic seizures and later developed recurrent refractory status epilepticus episodes at ages 19, 22 and 23 years, the latter being a novel manifestation in patients with KCNA2 mutations. 28806589 2017
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.310 Biomarker disease CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015