Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0178874 (
tumor progression
)
40,807
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The epilepsies are a common, clinically heterogeneous group of disorders defined by recurrent unprovoked seizures. 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. 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.
...
PMID:Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. 1181 Jan 7
