Condition: Status Epilepticus
rs267606959
in
POLG
gene and
Status Epilepticus
PMID 20883824
2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
PMID 20142534
2010 A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
rs863223953
in
YARS2;DNM1L
gene and
Status Epilepticus
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.