Article
Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.
Epilepsy research - 1 Dec 2013
Sadleir Lynette G, Agher Dahbia, Chabrol Elodie, Elkouby Léa, Leguern Eric, Paterson Sarah J, Harty Rosie, Bellows Susannah T, Berkovic Samuel F, Scheffer Ingrid E, Baulac Stéphanie
Abstract excerpt
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...
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