Familial epilepsy with auditory features associated with generalized abnormalities | Epilessia parziale familiare con sintomi uditivi associata ad anomalie generalizzate

Purpose: To describe a family with partial epilepsy with auditory features. Methods: We studied a family of four generations, including 56 subjects of whom 11 had epilepsy or febrile seizure (FS). We did a complete neuroradiological and neurophysiological study in 3 affected patients and took blood samples from 8 family members for genetic study of the LGI1/Epitempin gene. Results: The proband was a 57-year-old woman who has had partial epileptic seizures characterized by auditory aura, speech disturbance and sometimes secondary generalization since the age of 10 years. The interictal EEG showed both focal abnormalities on the left temporal regions and generalizated abnormalities. Her daughter (26 years) had febrile seizures,and since the age of 6 years has had tonic-clonic seizures constantly preceded by auditory aura. She has been seizure-free since she was 23. There were other affected members in the maternal pedigree: 3 had FS, 2 had FS and focal epilepsy, 2 generalized seizures and one cognitive impairment and intractable focal epilepsy. One subject in the paternal pedigree had epilepsy and 2 cognitive impairment.Conclusions: We describe a family with epilepsy with auditory features and some atypical characteristics: ADPEAF phenotype only in the proband and her daughter, concomitant focal and generalized abnormalities on the proband EEG, a high frequency of febrile seizures, high phenotype variability and cognitive impairment. This could be a casual association or a consequence of a mutation in one or several genes.