期刊
EPILEPSIA
卷 50, 期 -, 页码 52-54出版社
WILEY-BLACKWELL PUBLISHING, INC
DOI: 10.1111/j.1528-1167.2009.02122.x
关键词
Lateral temporal epilepsy; LGI1; Gene function
资金
- Genetic Commission of the Italian League Against Epilepsy
Lateral temporal epilepsies are still a poorly studied group of conditions, covering lesional and nonlesional cases. Within nonlesional cases, autosomal dominant lateral temporal epilepsy (ADLTE) is a well-defined, albeit rare, condition characterized by onset in adolescence or early adulthood of lateral temporal seizures with prominent auditory auras sometimes triggered by external noises, normal conventional magnetic resonance imaging (MRI), good response to antiepileptic treatment, and overall benign outcome. The same phenotype is shared by sporadic and familial cases with complex inheritance. Mutations in the LGI1 gene are found in about 50% of ADLTE families and 2% of sporadic cases. LGI1 shows no homology with known ion channel genes. Recent findings suggest that LGI1 may exert multiple functions, but it is not known which of them is actually related to lateral temporal epilepsy.
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