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.