title: The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders.
abstract: Recent studies suggest that mutations in the LGI1/Epitempin gene cause autosomal dominant lateral temporal epilepsy. This gene encodes a protein of unknown function, which we postulate is secreted. The LGI1 protein has leucine-rich repeats in the N-terminal sequence and a tandem repeat (which we named EPTP) in its C-terminal region. A redefinition of the C-terminal repeat and the application of sensitive sequence analysis methods enabled us to define a new superfamily of proteins carrying varying numbers of the novel EPTP repeats in combination with various extracellular domains. Genes encoding proteins of this family are located in genomic regions associated with epilepsy and other neurological disorders.
authors.affiliation: metaGen Pharmaceuticals GmbH, Oudenarder Strasse 16, D-13347 Berlin, Germany. eike.staub@metagen.de
authors.forename: Eike
authors.initials: E
authors.lastname: Staub
authors.forename: Jordi
authors.initials: J
authors.lastname: Pérez-Tur
authors.forename: Reiner
authors.initials: R
authors.lastname: Siebert
authors.forename: Carlo
authors.initials: C
authors.lastname: Nobile
authors.forename: Nicholas K
authors.initials: NK
authors.lastname: Moschonas
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Deloukas
authors.forename: Bernd
authors.initials: B
authors.lastname: Hinzmann
mesh_terms: D000595:Amino Acid Sequence / Q000235:genetics; D000818:Animals; D004833:Epilepsy, Temporal Lobe / Q000150:complications / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008969:Molecular Sequence Data; D021382:Protein Sorting Signals / Q000235:genetics; D017433:Protein Structure, Secondary; D017434:Protein Structure, Tertiary; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D016415:Sequence Alignment; D020080:Tandem Repeat Sequences
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D021382:Protein Sorting Signals; D011506:Proteins