Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations
Version 2 2024-06-13, 11:35Version 2 2024-06-13, 11:35
Version 1 2018-07-10, 10:28Version 1 2018-07-10, 10:28
journal contribution
posted on 2024-06-13, 11:35authored byLynette G Sadleir, Dahbia Agher, Elodie Chabrol, Léa Elkouby, Eric Leguern, Sarah J Paterson, Rosie Harty, Susannah T Bellows, Samuel F Berkovic, Ingrid E Scheffer, Stéphanie Baulac
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.