GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
Disease: Juvenile Myoclonic Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		0.020 GeneticVariation disease BEFREE We performed a comprehensive cognitive and neuropsychiatric evaluation with video-EEG on 61 adults with IGE (JME 19; IGE with generalized tonic-clonic seizures [GTCS] alone [IGE-GTCS] 22; childhood absence epilepsy [CAE] or juvenile absences epilepsy [JAE] persisting in adulthood 20). 30408705 2018
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		0.020 Biomarker disease BEFREE Here we report a gene associated with the four most common IGE subtypes: childhood and juvenile absence epilepsy (CAE and JAE), juvenile myoclonic epilepsy (JME), and epilepsy with grand mal seizures on awakening (EGMA; ref.8). 12612585 2003