Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations

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• 作者：Lynette G. Sadleir ; Dahbia Agher ; Elodie Chabrol ; L茅a Elkouby ; Eric Leguern ; Sarah J. Paterson ; Rosie Harty ; Susannah T. Bellows ; Samuel F. Berkovic ; Ingrid E. Scheffer ; St茅phanie Baulac
• 关键词：LGI1 ; Temporal lobe seizures ; ADEAF ; ADLTE ; ADPEAF
• 刊名：Epilepsy Research
• 出版年：December, 2013
• 年：2013
• 卷：107
• 期：3
• 页码：311-317
• 全文大小：937 K

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Summary

Mutations in LGI1 are found in 50% of families with autosomal dominant epilepsy with auditory features (ADEAF). In ADEAF, family members have predominantly lateral temporal lobe seizures but mesial temporal lobe semiology may also occur. We report here three families with novel LGI1 mutations (p.Ile82Thr, p.Glu225*, c.432-2_436del). Seven affected individuals reported an auditory aura and one a visual aura. A 10-year old boy described a cephalic aura followed by an unpleasant taste and oral automatisms without auditory, visual or psychic features.