LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures
Article first published online: 14 JUL 2002
Copyright © 2002 Wiley-Liss, Inc.
Annals of Neurology
Volume 52, Issue 3, pages 364–367, September 2002
How to Cite
Gu, W., Brodtkorb, E. and Steinlein, O. K. (2002), LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. Ann Neurol., 52: 364–367. doi: 10.1002/ana.10280
- Issue published online: 21 AUG 2002
- Article first published online: 14 JUL 2002
- Manuscript Accepted: 6 APR 2002
- Manuscript Revised: 5 APR 2002
- Manuscript Received: 15 FEB 2002
- Deutsche Forschungsgemeinschaft. Grant Number: SFB-TR3/A5
Autosomal dominant lateral temporal lobe epilepsy previously has been linked to chromosome 10q22-q24, and recently mutations in the LGI1 gene (Leucine-rich gene, Glioma Inactivated) have been found in some autosomal dominant lateral temporal lobe epilepsy families. We have now identified a missense mutation affecting a conserved cysteine residue in the extracellular region of the LGI1 protein. The C46R mutation is associated with autosomal dominant lateral temporal lobe epilepsy in a large Norwegian family showing unusual clinical features like short-lasting sensory aphasia and auditory symptoms.