title: Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.
abstract: Autosomal dominant lateral temporal epilepsy (EPT; OMIM 600512) is a form of epilepsy characterized by partial seizures, usually preceded by auditory signs. The gene for this disorder has been mapped by linkage studies to chromosomal region 10q24. Here we show that mutations in the LGI1 gene segregate with EPT in two families affected by this disorder. Both mutations introduce premature stop codons and thus prevent the production of the full-length protein from the affected allele. By immunohistochemical studies, we demonstrate that the LGI1 protein, which contains several leucine-rich repeats, is expressed ubiquitously in the neuronal cell compartment of the brain. Moreover, we provide evidence for genetic heterogeneity within this disorder, since several other families with a phenotype consistent with this type of epilepsy lack mutations in the LGI1 gene.
authors.affiliation: Unitat de Genètica Molecular, Institut de Biomedicina de València-CSIC, Jaume Roig 11, E-46010 València, Spain.
authors.forename: José M
authors.initials: JM
authors.lastname: Morante-Redolat
authors.forename: Ana
authors.initials: A
authors.lastname: Gorostidi-Pagola
authors.forename: Salomé
authors.initials: S
authors.lastname: Piquer-Sirerol
authors.forename: Amets
authors.initials: A
authors.lastname: Sáenz
authors.forename: Juan J
authors.initials: JJ
authors.lastname: Poza
authors.forename: Juan
authors.initials: J
authors.lastname: Galán
authors.forename: Stefan
authors.initials: S
authors.lastname: Gesk
authors.forename: Theologia
authors.initials: T
authors.lastname: Sarafidou
authors.forename: Victor-F
authors.initials: VF
authors.lastname: Mautner
authors.forename: Simona
authors.initials: S
authors.lastname: Binelli
authors.forename: Eike
authors.initials: E
authors.lastname: Staub
authors.forename: Bernd
authors.initials: B
authors.lastname: Hinzmann
authors.forename: Lisa
authors.initials: L
authors.lastname: French
authors.forename: Jean-F
authors.initials: JF
authors.lastname: Prud'homme
authors.forename: Daniela
authors.initials: D
authors.lastname: Passarelli
authors.forename: Paolo
authors.initials: P
authors.lastname: Scannapieco
authors.forename: Carlo A
authors.initials: CA
authors.lastname: Tassinari
authors.forename: Giuliano
authors.initials: G
authors.lastname: Avanzini
authors.forename: José F
authors.initials: JF
authors.lastname: Martí-Massó
authors.forename: Lan
authors.initials: L
authors.lastname: Kluwe
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Deloukas
authors.forename: Nicholas K
authors.initials: NK
authors.lastname: Moschonas
authors.forename: Roberto
authors.initials: R
authors.lastname: Michelucci
authors.forename: Reiner
authors.initials: R
authors.lastname: Siebert
authors.forename: Carlo
authors.initials: C
authors.lastname: Nobile
authors.forename: Jordi
authors.initials: J
authors.lastname: Pérez-Tur
authors.forename: Adolfo
authors.initials: A
authors.lastname: López de Munain
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D001921:Brain / Q000166:cytology / Q000378:metabolism; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D017931:DNA Primers / Q000737:chemistry; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005260:Female; D006801:Humans; D007124:Immunoenzyme Techniques; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D011817:Rabbits; D020449:Repetitive Sequences, Amino Acid; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017386:Sequence Homology, Amino Acid
chemical_list: D017931:DNA Primers; D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins