Epilepsy Genes

LGI (leucine-rich, glioma-inactivated)-1 mutations can cause autosomal dominant partial epilepsy with auditory features (ADPEAF). These seizures arise from the lateral temporal lobe. Auditory auras can be simple (humming, buzzing) or complex (music, muffled voices). Ictal receptive aphasia is another feature that is commonly seen.

CNRNA4 mutations are associated with familial frontal lobe epilepsy. SCN1A mutations can lead to variable presentations ranging from febrile seizures to Dravet syndrome. KCNQ2 mutations are associated with benign familial neonatal epilepsy. SCN4A mutations can cause varying types of periodic paralysis or myotonia.