title: Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.
abstract: 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.
authors.affiliation: Department of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand. Electronic address: Lynette.sadleir@otago.ac.nz.
authors.forename: Lynette G
authors.initials: LG
authors.lastname: Sadleir
authors.forename: Dahbia
authors.initials: D
authors.lastname: Agher
authors.forename: Elodie
authors.initials: E
authors.lastname: Chabrol
authors.forename: Léa
authors.initials: L
authors.lastname: Elkouby
authors.forename: Eric
authors.initials: E
authors.lastname: Leguern
authors.forename: Sarah J
authors.initials: SJ
authors.lastname: Paterson
authors.forename: Rosie
authors.initials: R
authors.lastname: Harty
authors.forename: Susannah T
authors.initials: ST
authors.lastname: Bellows
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Baulac
mesh_terms: D000161:Acoustic Stimulation / Q000009:adverse effects; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D020195:Epilepsy, Reflex / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010775:Photic Stimulation / Q000009:adverse effects; D011506:Proteins / Q000235:genetics*; D012640:Seizures / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins
keywords: ADEAF; ADLTE; ADPEAF; LGI1; Temporal lobe seizures