Condition: Generalized tonic-clonic seizures with focal onset


rs863223953 in YARS2;DNM1L gene and Generalized tonic-clonic seizures with focal onset PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.