Condition: EEG with generalized epileptiform discharges


rs1562846694 in ACTL6B;TFR2 gene and EEG with generalized 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 EEG with generalized epileptiform discharges PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.