Condition: Multifocal epileptiform discharges


rs1562846694 in ACTL6B;TFR2 gene and Multifocal epileptiform discharges PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs752746786 in GNB1 gene and Multifocal epileptiform discharges PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs863223953 in YARS2;DNM1L gene and Multifocal epileptiform discharges 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.