Epilepsy, Familial Temporal Lobe, 6 (ETL6)

Epilepsy, Familial Temporal Lobe, 6, also known as familial temporal lobe epilepsy 6, is related to chronic pulmonary heart disease and waardenburg syndrome, type 2c. An important gene associated with Epilepsy, Familial Temporal Lobe, 6 is ETL6 (Epilepsy, Familial Temporal Lobe, 6), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. Affiliated tissues include temporal lobe, and related phenotypes are focal impaired awareness seizure and bilateral tonic-clonic seizure with focal onset