Condition: Generalized myoclonic seizures
rs863223953
in
YARS2;DNM1L
gene and
Generalized myoclonic seizures
PMID 27145208
2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.
PMID 26604000
2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.