title: LGI1 gene mutation screening in sporadic partial epilepsy with auditory features.
abstract: Partial epilepsy with auditory features occasionally segregates in families as an autosomal dominant trait. In some families mutations in the leucine-rich glioma inactivated (LGI1) gene have been identified. Sporadic cases might harbour either denovo or low-penetrant LGI1 mutations, which will substantially alter the family risk for epilepsy. We selected sixteen sporadic patients with cryptogenic temporal lobe epilepsy and partial seizures with auditory features. We compared clinical features of these patients with those of published autosomal dominant family cases. We screened these patients for LGI1 mutations. Comparing the sporadic patients with the published familial cases no difference in either the primary auditory features or in the other associated epileptic manifestations was identified. Sequence analysis of the whole LGI1 gene coding regions in sporadic patients did not reveal changes in the LGI1 gene. The genetic analysis demonstrates that LGI1 is not a major gene for sporadic cases of partial epilepsy with auditory features at least in the Italian population. Screening of sporadic patients for LGI1 mutations appears not useful in genetic counselling of these patients.
authors.affiliation: Dipartimento di Medicina Sperimentale e Patologia, Universita' di Roma La Sapienza, Rome, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Flex
authors.forename: A
authors.initials: A
authors.lastname: Pizzuti
authors.forename: C
authors.initials: C
authors.lastname: Di Bonaventura
authors.forename: S
authors.initials: S
authors.lastname: Douzgou
authors.forename: G
authors.initials: G
authors.lastname: Egeo
authors.forename: J
authors.initials: J
authors.lastname: Fattouch
authors.forename: M
authors.initials: M
authors.lastname: Manfredi
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: A T
authors.initials: AT
authors.lastname: Giallonardo
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D020937:Epilepsy, Partial, Sensory / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004833:Epilepsy, Temporal Lobe / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins