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- Title
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.
- Authors
Kalachikov, Sergey; Evgrafov, Oleg; Ross, Barbara; Winawer, Melodie; Barker-Cummings, Christie; Boneschi, Filippo Martinelli; Choi, Chang; Morozov, Pavel; Das, Kamna; Teplitskaya, Elita; Yu, Andrew; Cayanis, Eftihia; Penchaszadeh, Graciela; Kottmann, Andreas H.; Pedley, Timothy A.; Hauser, W. Allen; Ottman, Ruth; Gilliam, T. Conrad
- Abstract
The epilepsies are a common, clinically heterogeneous group of disorders defined by recurrent unprovoked seizures. Here we describe identification of the causative gene in autosomaldominant partial epilepsy with auditory features (ADPEAF, MIM 600512), a rare form of idiopathic lateral temporal lobe epilepsy characterized by partial seizures with auditory disturbances. We constructed a complete, 4.2-Mb physical map across the genetically implicated disease-gene region, identified 28 putative genes (Fig. 1) and resequenced all or part of 21 genes before identifying presumptive mutations in one copy of the leucine-rich, glioma-inactivated 1 gene (LGI1) in each of five families with ADPEAF. Previous studies have indicated that loss of both copies of LGI1 promotes glial tumor progression. We show that the expression pattern of mouse Lgi1 is predomi- nantly neuronal and is consistent with the anatomic regions involved in temporal lobe epilepsy. Discovery of LGI1 as a cause of ADPEAF suggests new avenues for research on pathogenic mechanisms of idiopathic epilepsies.
- Subjects
EPILEPSY; TEMPORAL lobe epilepsy; GENES
- Publication
Nature Genetics, 2002, Vol 30, Issue 3, p335
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng832