Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy

Epilepsy Research

Volumn 94, Issue 1-2, 2011, Pages 110-116

  Busolin, Giorgia ^a   Malacrida, Sandro ^b   Bisulli, Francesca ^c   Striano, Pasquale ^d   Di Bonaventura, Carlo ^e   Egeo, Gabriella ^f   Pasini, Elena ^g   Cianci, Vittoria ^g   Ferlazzo, Edoardo ^h   Bianchi, Amedeo ⁱ   Coppola, Giangennaro ^j   Elia, Maurizio ^k   Mecarelli, Oriano ^e   Gobbi, Giuseppe ^l   Casellato, Susanna ^m   Marchini, Marco ⁿ   Binelli, Simona ^o   Freri, Elena ^o   Granata, Tiziana ^o   Posar, Annio ^c   Parmeggiani, Antonia ^c   Vigliano, Piernanda ^p   Boniver, Clementina ^b   Aguglia, Umberto ^g   Striano, Salvatore ^q   Tinuper, Paolo ^c   Giallonardo, A Teresa ^e   Michelucci, Roberto ^f   Nobile, Carlo ^a   more..

^a CNR   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

^e SAPIENZA UNIVERSITY OF ROME   (Italy)

^f BELLARIA HOSPITAL   (Italy)

^g UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^h IRCCS CENTRO NEUROLESI BONINO PULEJO   (Italy)

ⁱ IRCCS POLICLINICO SAN DONATO   (Italy)

^j SECOND UNIVERSITY OF NAPLES   (Italy)

^k OASI RESEARCH INSTITUTE IRCCS   (Italy)

^l MAGGIORE HOSPITAL   (Italy)

^m UNIVERSITY OF SASSARI   (Italy)

ⁿ CARLO POMA HOSPITAL   (Italy)

^o DEPARTMENT OF NEUROSURGERY   (Italy)

^p Martini Hospital   (Italy)

^q UNIVERSITY OF NAPLES FEDERICO II   (Italy)

more..

Author keywords

Case control study; Haplotype analysis; KCNAB1; Lateral temporal epilepsy; SNPs

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; ITALY; KCNAB1 GENE; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE SUSCEPTIBILITY; SINGLE NUCLEOTIDE POLYMORPHISM; TEMPORAL LOBE EPILEPSY;

EPILEPSY, TEMPORAL LOBE; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; INTRONS; KV1.3 POTASSIUM CHANNEL; LINKAGE DISEQUILIBRIUM; LOGISTIC MODELS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS;

EID: 79952453380     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2011.01.010     Document Type: Article

References (22)

1. Bisulli F., Tinuper P., Avoni P., Striano P., Striano S., d'Orsi G., Vignatelli L., Bagattin A., Scudellaro E., Florindo F., Nobile C., Tassinari C.A., Baruzzi A., Michelucci R. Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases. Brain 2004, 127:1343-1352.
2. Bisulli F., Tinuper P., Scudellaro E., Naldi I., Bagattin A., Avoni P., Michelucci R., Nobile C. A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. Ann. Neurol. 2004, 56:455-456.
3. Cavalleri G.L., Weale M.E., Shianna K.V., Singh R., Lynch J.M., Grinton B., Szoeke C., Murphy K., Kinirons P., O'Rourke D., Ge D., Depondt C., Claeys K.G., Pandolfo M., Gumbs C., Walley N., McNamara J., Mulley J.C., Linney K.N., Sheffield L.J., Radtke R.A., Tate S.K., Chissoe S.L., Gibson R.A., Hosford D., Stanton A., Graves T.D., Hanna M.G., Eriksson K., Kantanen A.M., Kalviainen R., O'Brien T.J., Sander J.W., Duncan J.S., Scheffer I.E., Berkovic S.F., Wood N.W., Doherty C.P., Delanty N., Sisodiya S.M., Goldstein D.B. Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol. 2007, 6:970-980.
4. Diani E., Di Bonaventura C., Mecarelli O., Gambardella A., Elia M., Bovo G., Bisulli F., Pinardi F., Binelli S., Egeo G., Castellotti B., Striano P., Striano S., Bianchi A., Ferlazzo E., Vianello V., Coppola G., Aguglia U., Tinuper P., Giallonardo A.T., Michelucci M., Nobile C. Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins. Epilepsy Res. 2008, 80:1-8.
5. Florindo I., Bisulli F., Pittau F., Naldi I., Striano P., Striano S., Michelucci R., Testoni S., Baruzzi A., Tinuper P. Lateralizing value of the auditory aura in partial seizures. Epilepsia 2006, 47(Suppl. 5):68-72.
6. Kalachikov S., Evgrafov O., Ross B., Winawer M., Barker-Cummings C., Martinelli Boneschi F., Choi C., Morozov P., Das K., Teplitskaya E., Yu A., Cayanis E., Penchaszadeh G., Kottmann A.H., Pedley T.A., Hauser W.A., Ottman R., Gilliam T.C. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat. Genet. 2002, 30:335-341.
7. Kobe B., Kajava A.V. The leucine-rich repeat as a protein recognition motif. Curr. Opin. Struct. Biol. 2001, 11:725-732.
8. Lettre G., Lange C., Hirschhorn J.N. Genetic model testing and statistical power in population-based association studies of quantitative traits. Genet. Epidemiol. 2007, 31:358-362.
9. Lewontin R.C. On measures of gametic disequilibrium. Genetics 1988, 120:849-852.
10. Menashe I., Rosenberg P.S., Chen B.E. PGA: power calculator for case-control genetic association analyses. BMC Genet. 2008, 13:9-36.
11. Michelucci R., Poza J.J., Sofia V., de Feo M.R., Binelli S., Bisulli F., Scudellaro E., Simionati B., Zimbello R., D'Orsi G., Passarelli D., Avoni P., Avanzini G., Tinuper P., Biondi R., Valle G., Mautner V.F., Stephani U., Tassinari C.A., Moschonas N.K., Siebert R., Lopez de Munain A., Perez-Tur J., Nobile C. Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. Epilepsia 2003, 44:1289-1297.
12. Michelucci R., Mecarelli O., Bovo G., Bisulli F., Testoni S., Striano P., Striano S., Tinuper P., Nobile C. A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures. Neurology 2007, 68:2150-2151.
13. Morante-Redolat J.M., Gorostidi-Pagola A., Piquer-Sirerol S., Saenz A., Poza J.J., Galan J., Gesk S., Sarafidou T., Mautner V.F., Binelli S., Staub E., Hinzmann B., French L., Prud'homme J.F., Passarelli D., Scannapieco P., Tassinari C.A., Avanzini G., Marti-Masso J.F., Kluwe L., Deloukas P., Moschonas N.K., Michelucci R., Siebert R., Nobile C., Perez-Tur J., Lopez de Munain A. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum. Mol. Genet. 2002, 11:1119-1128.
14. Nobile C., Michelucci R., Andreazza S., Pasini E., Tosatto S.C.E., Striano P. LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. Hum. Mutat. 2009, 30:530-536.
15. Ottman R., Risch N., Hauser W.A., Pedley T.A., Lee J.H., Barker-Cummings C., Lustenberger A., Nagle K.J., Lee K.S., Scheuer M.L., Neystat M., Susser M., Wilhelmsen K.C. Localization of a gene for partial epilepsy to chromosome 10q. Nat. Genet. 1995, 10:56-60.
16. Ottman R., Winawer M.R., Kalachikov S., Barker-Cummings C., Gilliam T.C., Pedley T.A., Hauser W.A. LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 2004, 62:1120-1126.
17. Poza J.J., Saenz A., Martinez-Gil A., Cheron N., Cobo A.M., Urtasun M., Marti-Masso J.F., Grid D., Beckmann J.S., Prud'homme J.F., Lopez de Munain A. Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q. Ann. Neurol. 1999, 45:182-188.
18. Rees M.I. The conundrum of complexity in epilepsy. Lancet Neurol. 2007, 6:943-944.
19. Schulte U., Thumfart J.O., Klocker N., Sailer C.A., Bildl W., Biniossek M., Dehn D., Deller T., Eble S., Abbass K., Wangler T., Knaus H.G., Fakler B. The epilepsy-linked Lgi1 protein assembles into presynaptic kv1 channels and inhibits inactivation by Kvbeta1. Neuron 2006, 49:697-706.
20. Solé X., Guinò E., Valls J., Iniesta R., Moreno V. SNPStats: a web tool for the analysis of association studies. Bioinformatics 2006, 22:1928-1929.
21. Staub E., Perez-Tur J., Siebert R., Nobile C., Moschonas N.K., Deloukas P., Hinzmann B. The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders. Trends Biochem. Sci. 2002, 27:441-444.
22. Williamson P.D., Engel J. Anatomic classification of focal epilepsies. Epilepsy a Comprehensive Textbook 2008, 2465-2477. Wolters Kluwer/Lippincott Williams & Wilkins, Philadelphia. 2nd ed. J. Engel, T.A. Pedley (Eds.).