title: Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy.
abstract: Autosomal dominant lateral temporal epilepsy (ADTLE) is a genetically transmitted epileptic syndrome characterized by focal seizures with predominant auditory symptoms likely originating from the lateral region of the temporal lobe. Mutations in coding region or exon splice sites of the leucine-rich, glioma-inactivated 1 (LGI1) gene account for about 50% of ADLTE families. De novo LGI1 mutations of the same kind have also been found in about 2.5% of non-familial cases with idiopathic partial epilepsy with auditory features (IPEAF). In both conditions, mutations in the LGI1 promoter region have not been reported. We sequenced the minimal promoter region of LGI1 in the probands of 16 ADLTE families and in 104 sporadic IPEAF patients and no mutations clearly linked to the disease were found. However, two polymorphisms, -500G>A and -507G>A, with potential functional implications were identified and analysed in the cohort of sporadic IPEAF patients but their frequencies did not differ from those found in a control population of similar age, gender and geographic origin. We also analysed in our study population the GABA(B) receptor 1 c.1465G>A and the prodynorphin promoter 68-bp repeat polymorphisms, previously associated with temporal lobe epilepsy. None of these polymorphisms showed a significant association with IPEAF, whereas a tendency towards association with the prodynorphin low expression (L) alleles was found in the small group of ADLTE index cases, in agreement with previous studies suggesting that this polymorphism is a susceptibility factor in familial forms of temporal lobe epilepsy.
authors: CNR-Institute of Neurosciences, Section of Padua, Padova, Italy.
authors: Giorgia
authors: G
authors: Bovo
authors: Erica
authors: E
authors: Diani
authors: Francesca
authors: F
authors: Bisulli
authors: Carlo
authors: C
authors: Di Bonaventura
authors: Pasquale
authors: P
authors: Striano
authors: Antonio
authors: A
authors: Gambardella
authors: Edoardo
authors: E
authors: Ferlazzo
authors: Gabriella
authors: G
authors: Egeo
authors: Oriano
authors: O
authors: Mecarelli
authors: Maurizio
authors: M
authors: Elia
authors: Amedeo
authors: A
authors: Bianchi
authors: Stefania
authors: S
authors: Bortoluzzi
authors: Andrea
authors: A
authors: Vettori
authors: Umberto
authors: U
authors: Aguglia
authors: Simona
authors: S
authors: Binelli
authors: Arturo
authors: A
authors: De Falco
authors: Giangennaro
authors: G
authors: Coppola
authors: Giuseppe
authors: G
authors: Gobbi
authors: Vito
authors: V
authors: Sofia
authors: Salvatore
authors: S
authors: Striano
authors: Paolo
authors: P
authors: Tinuper
authors: Anna T
authors: AT
authors: Giallonardo
authors: Roberto
authors: R
authors: Michelucci
authors: Carlo
authors: C
authors: Nobile
mesh_terms: D001483:Base Sequence; D004745:Enkephalins / Q000235:genetics*; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D011498:Protein Precursors / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D018080:Receptors, GABA-B / Q000235:genetics*
chemical_list: D004745:Enkephalins; D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011498:Protein Precursors; D011506:Proteins; D018080:Receptors, GABA-B; C033660:preproenkephalin