DNM1L, dynamin 1 like, 10059

N. diseases: 273; N. variants: 15
Disease: Epilepsia Partialis Continua ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085543
Disease: Epilepsia Partialis Continua
Epilepsia Partialis Continua 		0.010 GeneticVariation disease BEFREE In contrast, we report identical novel missense mutations in DNM1L in two unrelated probands who experienced normal development for several years before presenting with refractory focal status epilepticus and subsequent rapid neurological decline. 27145208 2016