TY - JOUR
T1 - Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy
AU - Bovo, Giorgia
AU - Diani, Erica
AU - Bisulli, Francesca
AU - Di Bonaventura, Carlo
AU - Striano, Pasquale
AU - Gambardella, Antonio
AU - Ferlazzo, Edoardo
AU - Egeo, Gabriella
AU - Mecarelli, Oriano
AU - Elia, Maurizio
AU - Bianchi, Amedeo
AU - Bortoluzzi, Stefania
AU - Vettori, Andrea
AU - Aguglia, Umberto
AU - Binelli, Simona
AU - De Falco, Arturo
AU - Coppola, Giangennaro
AU - Gobbi, Giuseppe
AU - Sofia, Vito
AU - Striano, Salvatore
AU - Tinuper, Paolo
AU - Giallonardo, Anna T.
AU - Michelucci, Roberto
AU - Nobile, Carlo
PY - 2008/5/2
Y1 - 2008/5/2
N2 - 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.
AB - 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.
KW - Association study
KW - GABBR1
KW - Lateral temporal epilepsy
KW - LGI1 promoter
KW - Prodynorphin gene
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U2 - 10.1016/j.neulet.2008.02.045
DO - 10.1016/j.neulet.2008.02.045
M3 - Article
C2 - 18355961
AN - SCOPUS:41749097834
VL - 436
SP - 23
EP - 26
JO - Neuroscience Letters
JF - Neuroscience Letters
SN - 0304-3940
IS - 1
ER -