A new locus for familial temporal lobe epilepsy on chromosome 3q.

Background: Temporal lobe epilepsy (TLE) is a common and heterogeneous focal epilepsy syndrome with a complex etiology, involving both environmental and genetic factors. Several familial forms of TLE have been described, including familial lateral TLE (FLTLE), familial mesial TLE (FMTLE) without hippocampal sclerosis, and FMTLE with hippocampal sclerosis. Mutations have been identified only in the leucine-rich, glioma-inactivated 1 (LGI1) gene on chromosome 10q22-q24 in FLTLE.

Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q.

Purpose: To characterize the clinical features and molecular genetic background in a family with various epilepsy phenotypes including febrile seizures, childhood absence epilepsy, and possible temporal lobe epilepsy.

Methods: Clinical data were collected. DNA and RNA were extracted from peripheral blood.