title: Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy.
abstract: Mutations in the LGI1/Epitempin gene cause autosomal dominant lateral temporal lobe epilepsy (ADLTE), a partial epilepsy characterized by the presence of auditory seizures. However, not all the pedigrees with a phenotype consistent with ADLTE show mutations in LGI1/Epitempin, or evidence for linkage to the 10q24 locus. Other authors as well as ourselves have found an internal repeat (EPTP, pfam# PF03736) that allowed the identification of three other genes sharing a sequence and structural similarity with LGI1/Epitempin. In this work, we present the sequencing of these genes in a set of ADLTE families without mutations in both LGI1/Epitempin and sporadic cases. No analyzed polymorphisms modified susceptibility in either the familial or sporadic forms of this partial epilepsy.
authors.affiliation: Unitat de Genètica Molecular, Dept. de Genòmica i Proteòmica, Institut de Biomedicina de València - CSIC, Jaume Roig, 11. E46010 València, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Ayerdi-Izquierdo
authors.forename: G
authors.initials: G
authors.lastname: Stavrides
authors.forename: J J
authors.initials: JJ
authors.lastname: Sellés-Martínez
authors.forename: L
authors.initials: L
authors.lastname: Larrea
authors.forename: G
authors.initials: G
authors.lastname: Bovo
authors.forename: A
authors.initials: A
authors.lastname: López de Munain
authors.forename: F
authors.initials: F
authors.lastname: Bisulli
authors.forename: J F
authors.initials: JF
authors.lastname: Martí-Massó
authors.forename: R
authors.initials: R
authors.lastname: Michelucci
authors.forename: J J
authors.initials: JJ
authors.lastname: Poza
authors.forename: P
authors.initials: P
authors.lastname: Tinuper
authors.forename: U
authors.initials: U
authors.lastname: Stephani
authors.forename: P
authors.initials: P
authors.lastname: Striano
authors.forename: S
authors.initials: S
authors.lastname: Striano
authors.forename: E
authors.initials: E
authors.lastname: Staub
authors.forename: T
authors.initials: T
authors.lastname: Sarafidou
authors.forename: B
authors.initials: B
authors.lastname: Hinzmann
authors.forename: N
authors.initials: N
authors.lastname: Moschonas
authors.forename: R
authors.initials: R
authors.lastname: Siebert
authors.forename: P
authors.initials: P
authors.lastname: Deloukas
authors.forename: C
authors.initials: C
authors.lastname: Nobile
authors.forename: J
authors.initials: J
authors.lastname: Pérez-Tur
mesh_terms: D000483:Alleles; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins