DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.050 Biomarker disease BEFREE The absence of dystrophin, characterizing Duchenne muscular dystrophy (DMD), is associated with brain related comorbidities such as neurodevelopmental (e.g., cognitive and behavioural) deficits and epilepsy. 30069964 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.050 GeneticVariation disease BEFREE In our study, the presence of the 's' allele of the COL1A1 Sp1 polymorphism in individuals with epilepsy was related to lower bone BMD (lumbar and femoral). 26727275 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.050 GeneticVariation disease BEFREE A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene. 27955624 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.050 Biomarker disease BEFREE Additionally, three studies reported a higher prevalence of epilepsy in DMD, suggesting that the absence of dystrophin might be related to increased CNS excitability. 25677308 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.050 Biomarker disease BEFREE Our data suggests that epilepsy may be a rare associated feature in children with muscular dystrophy secondary to dystrophin deficiency. 10728205 1997