LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures.
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.
Gu
Wenli
W
Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.
Brodtkorb
Eylert
E
Steinlein
Ortrud K
OK
D001037:Aphasia / Q000209:etiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D004833:Epilepsy, Temporal Lobe / Q000150:complications / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D020125:Mutation, Missense; D009664:Norway; D010375:Pedigree; D011506:Proteins / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins