Journal
NATURE GENETICS
Volume 30, Issue 3, Pages 335-341Publisher
NATURE AMERICA INC
DOI: 10.1038/ng832
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Funding
- NINDS NIH HHS [R01 NS036319-08, R01 NS020656-13, R01 NS036319, R01 NS020656] Funding Source: Medline
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS036319, R01NS020656] Funding Source: NIH RePORTER
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The epilepsies are a common, clinically heterogeneous group of disorders defined by recurrent unprovoked seizures(1). Here we describe identification of the causative gene in autosomal-dominant partial epilepsy with auditory features (ADPEAF, MIM 600512), a rare form of idiopathic lateral temporal lobe epilepsy characterized by partial seizures with auditory disturbances(2,3). 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 predominantly 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.
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