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.