Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy

Giorgia Bovo, Erica Diani, Francesca Bisulli, Carlo Di Bonaventura, Pasquale Striano, Antonio Gambardella, Edoardo Ferlazzo, Gabriella Egeo, Oriano Mecarelli, Maurizio Elia, Amedeo Bianchi, Stefania Bortoluzzi, Andrea Vettori, Umberto Aguglia, Simona Binelli, Arturo De Falco, Giangennaro Coppola, Giuseppe Gobbi, Vito Sofia, Salvatore StrianoPaolo Tinuper, Anna T. Giallonardo, Roberto Michelucci, Carlo Nobile

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)23-26
Number of pages4
JournalNeuroscience Letters
Volume436
Issue number1
DOIs
Publication statusPublished - May 2 2008

Keywords

  • Association study
  • GABBR1
  • Lateral temporal epilepsy
  • LGI1 promoter
  • Prodynorphin gene

ASJC Scopus subject areas

  • Neuroscience(all)

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