title: Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism.
abstract: Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a genetically heterogeneous disorder. Some patients exhibit mutations in the leucine-rich glioma inactivated (LGI1) gene. In an ADPEAF family, a novel mutation in the Lgi1 signal peptide is predicted to interfere with the protein cell sorting, resulting in altered processing. This finding suggests a loss-of-function mechanism for LGI1 gene mutations causing ADPEAF even if other mechanisms cannot be ruled out.
authors.affiliation: Dipartimento di Medicina Sperimentale e Patologia, Università di Roma La Sapienza and Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo IRCSS, Istituto Mendel, Rome, Italy. a.pizzuti@css-mendel.it
authors.forename: Antonio
authors.initials: A
authors.lastname: Pizzuti
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Flex
authors.forename: Carlo
authors.initials: C
authors.lastname: Di Bonaventura
authors.forename: Tania
authors.initials: T
authors.lastname: Dottorini
authors.forename: Gabriella
authors.initials: G
authors.lastname: Egeo
authors.forename: Mario
authors.initials: M
authors.lastname: Manfredi
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Anna Teresa
authors.initials: AT
authors.lastname: Giallonardo
mesh_terms: D000161:Acoustic Stimulation / Q000009:adverse effects; D000328:Adult; D000595:Amino Acid Sequence / Q000235:genetics; D020195:Epilepsy, Reflex / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins