LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy

Human Mutation

Volumn 30, Issue 4, 2009, Pages 530-536

  Nobile, Carlo ^a,c   Michelucci, Roberto ^b   Andreazza, Simonetta ^c   Pasini, Elena ^b   Tosatto, Silvio C E ^c   Striano, Pasquale ^d  

^a CNR   (Italy)

^b BELLARIA HOSPITAL   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

Author keywords

AD PEAF; ADTLE; Epitempin; In silico analysis; Lateral temporal epilepsy; LGI1; LRR domain

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; DNA POLYMORPHISM; FRAMESHIFT MUTATION; GENE; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOACUSIS; INDEL MUTATION; LEUCINE RICH GLIOMA INACTIVATED 1 GENE; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; REVIEW; RNA SPLICING; TEMPORAL LOBE EPILEPSY;

AMINO ACID SEQUENCE; EPILEPSY, TEMPORAL LOBE; GENES, DOMINANT; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, GENETIC; PROTEIN STRUCTURE, TERTIARY; PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 63749094521     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20925     Document Type: Review

References (53)

1. Barton WA, Liu BP, Tzvetkova D, Jeffrey PD, Fournier AE, Sah D, Cate R, Strittmatter SM, Nikolov DB. 2003. Structure and axon outgrowth inhibitor binding of the Nogo-66 receptor and related proteins. EMBO J 22:3291-3302.
2. Berkovic SF, Izzillo P, McMahon JM, Harkin LA, Mcintosh AM, Phillips HA, Briellmann RS, Wallace RH, Mazarib A, Neufeld MY, Korczyn AD, Scheffer IE, Mulley JC. 2004. LGI1 mutations in temporal lobe epilepsies. Neurology 62:1115-1119.
3. Bermingham JR, Shearin H, Pennington J, O'Moore J, Jaegle M, Driegen S, van Zon A, Darbas A, Ozkaynak E, Ryu EJ, Milbrandt J, Meijer D. 2006.The claw paw mutation reveals a role for LGI4 in peripheral nerve development. Nat Neurosci 9:76-84.
4. Bindewald E, Cestaro A, Hesser J, Heiler M, Tosatto SC. 2003. MANIFOLD: protein fold recognition based on secondary structure, sequence similarity and enzyme classification. Protein Eng 16:785-789.
5. Bisulli F, Tinuper P, Avoni P, Striano P, Striano S, d'Orsi G, Vignatelli L, Bagattin A, Scudellaro E, Florindo F, Nobile C, Tassinari CA, Baruzzi A, Michelucci R. 2004a. Idiopathic partial epilepsy with auditory features(IPEAF): a clinical and genetic study of 53 sporadic cases. Brain 127:1343-1352.
6. Bisulli F, Tinuper P, Scudellaro E, Naldi I, Bagattin A, Avoni P, Michelucci R, Nobile C. 2004b. A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. Ann Neurol 56:455-456.
7. Bovo G, Diani E, Bisulli F, Di Bonaventura C, Striano P, Gambardella A, Ferlazzo E, Egeo G, Mecarelli O, Elia M, Bianchi A, Bortoluzzi S, Vettori A, Aguglia U, Binelli S, de Falco A, Coppola G, Gobbi G, Sofia V, Striano S, Tinuper P, Giallonardo AT, Michelucci M, Nobile C. 2008. Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy. Neurosci Lett 436, 23-26.
8. Brodtkorb E, Gu W, Nakken KO, Fischer C, Steinlein OK. 2002. Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24. Epilepsia 43:228-235.
9. Buchanan SG, Gay NJ. 1996. Structural and functional diversity in the leucine-rich repeat family of proteins. Prog Biophys Mol Biol 65:1-44.
10. Chabrol E, Popescu C, Gourfinkel-An I, Trouillard O, Depienne C, Senechal K, Baulac M, LeGuern E, Baulac S. 2007. Two novel epilepsy-linked mutations leading to a loss of function of LGI1. Arch Neurol 64:217-222.
11. Chernova OB, Somerville RP, Cowell JK. 1998. A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors. Oncogene 17:2873-2881.
12. Cowell JK. 2002. Epilepsy research gets new guidance. Nat Med 8:219-220.
13. 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 AT, Michelucci M, Nobile C. 2008. Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1- associated proteins. Epilepsy Res 80:1-8.
14. Fertig E, Lincoln A, Martinuzzi A, Mattson RH, Hisama FM. 2003. Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. Neurology 60:1687-1690.
15. Fukata Y, Adesnik H, Iwanaga T, Bredt DS, Nicoll RA, Fukata M. 2006. Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. Science 313:1792-1795.
16. Furlan S, Roncaroli F, Forner F, Vitiello L, Calabria E, Piquer-Sirerol S, Valle G, Perez-Tur J, Michelucci R, Nobile C. 2006. The LGI1/Epitempin gene encodes two protein isoforms differentially expressed in human brain. J Neurochem 98:985-991.
17. Gabellini N, Masola V, Quartesan S, Oselladore B, Nobile C, Michelucci R, Curtarello M, Parolin C, Palu G. 2006. Increased expression of LGI1 gene triggers growth inhibition and apoptosis of neuroblastoma cells. J Cell Physiol 207:711-721.
18. Gu W, Brodtkorb E, Steinlein OK. 2002. LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. Ann Neurol 52:364-367.
19. Gu W, Gilbert Y, Wirth T, Elischer A, Bloch W, Meyer A, Steinlein OK, Begemann G. 2005. Using gene-history and expression analyses to assess the involvement of LGI genes in human disorders. Mol Biol Evol 22:2209-2216.
20. Hedera P, Abou-Khalil B, Crunk AE, Taylor KA, Haines JL, Sutcliffe JS. 2004. Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene. Epilepsia 45:218-222.
21. Kajava AV, Kobe B. 2002. Assessment ofthe ability to model proteins with leucine-rich repeats in light of the latest structural information. Protein Sci 11:1082-1090.
22. 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 AH, Pedley TA, Hauser WA, Ottman R, Gilliam TC. 2002. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 30:335-341.
23. Kobayashi E, Santos NF, Torres FR, Secolin R, Sardinha LA, Lopez-Cendes I, Cendes F. 2003. Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras. Arch Neurol 60:1546-1551.
24. Kobe B, Kajava AV. 2001. The leucine-rich repeat as a protein recognition motif. Curr Opin Struct Biol 11:725-732.
25. Krex D, Hauses M, Appelt H, Mohr B, Ehninger G, Schackert HK, Schackert G. 2002. Physical and functional characterization of the human LGI1 gene and its possible role in glioma development. Acta Neuropathol 103:255-266.
26. Kunapuli P, Chitta KS, Cowell JK. 2003. Suppression of the cell proliferation and invasion phenotypes in glioma cells by the LGI1 gene. Oncogene 22: 3985-3991.
27. Kunapuli P, Kasyapa CS, Hawthorn L, Cowell JK. 2004. LGI1, a putative tumor metastasis suppressor gene, controls in vitro invasiveness and expression of matrix metalloproteinases in glioma cells through the ERK1/2 pathway. J Biol Chem 279:23151-23157.
28. Landau M, Mayrose I, Rosenberg Y, Glaser F, Martz E, Pupko T, Ben-Tal N. 2005. ConSurf 2005: the projection of evolutionary conservation scores of residues on protein structures. Nucleic Acids Res 33:W299-W302.
29. Lee SE, Lee AY, Park WJ, Jun DA, Kwon NS, Baek KJ, Kim YG, Yun HY. 2006. Mouse LGI3 gene: expression in brain and promoter analysis. Gene 372:8-17.
30. Mautner VF, Lindenau M, Gottesleben A, Goetze G, Kluwe L. Supporting evidence of a gene for partial epilepsy on 10q. Neurogenetics 3:31-34.
31. Michelucci R, Passarelli D, Pitzalis S, Dal Corso G, Tassinari CA, Nobile C. 2000.Autosomal dominant partial epilepsy with auditory features: description of a new family. Epilepsia 41:967-970.
32. Michelucci R, Poza JJ, Sofia V, de Feo MR, 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 VF, Stephani U, Tassinari CA, Moschonas NK, Siebert R, Lopez de Munain A, Perez-Tur J, Nobile C. 2003. Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. Epilepsia 44:1289-1297.
33. Michelucci R, Mecarelli O, Bovo G, Bisulli F, Testoni S, Striano P, Striano S, Tinuper P, Nobile C. 2007. A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures. Neurology 68:2150-2151.
34. Mitchell PJ, Timmons PM, Herbert JM, Rigby PWJ, Tjian R. 1991. Transcription factor AP-2 is expressed in neural crest cell lineages during mouse embryogen-esis. Genes Dev 5:105-119.
35. Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, Saenz A, Poza JJ, Galan J, Gesk S, Sarafidou T, Mautner VF, Binelli S, Staub E, Hinzmann B, French L, Prud'homme JF, Passarelli D, Scannapieco P, Tassinari CA, Avanzini G, Marti-Masso JF, Kluwe L, Deloukas P, Moschonas NK, Michelucci R, Siebert R, Nobile C, Perez-Tur J, Lopez de Munain A. 2002. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet 11:1119-1128.
36. Ottman R, Risch N, Hauser WA, Pedley TA, Lee JH, Barker-Cummings C, Lustenberger A, Nagle KJ, Lee KS, Scheuer ML, Neystat M, Susser M, Wilhelmsen KC. 1995. Localization ofa gene for partial epilepsy to chromosome 10q. Nat Genet 10:56-60.
37. Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam TC, Pedley TA, Hauser WA. 2004. LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 62:1120-1126.
38. Paoli M. 2001. Protein folds propelled by diversity. Prog Biophys Molec Biol 76:103-130.
39. Piepoli T, Jakupoglu C, Gu W, Lualdi E, Suarez-Merino B, Poliani PL, Cattaneo MG, Ortino B, Goplen D, Wang J, Mola R, Inverardi F, Frassoni C, Bjerkvig R, Steinlein O, Vicentini LM, Brustle O, Finocchiaro G. 2006. Expression studies in gliomas and glial cells do not support a tumor suppressor role for LGI1. Neuro Oncol 8:96-108.
40. Pisano T, Marini C, Brovedani P, Brizzolara D, Pruna D, Mei D, Moro F, Cianchetti C, Guerrini R. 2005. Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation. Epilepsia 46:118-123.
41. Pizzuti A, Flex E, Di Bonaventura C, Dottorini T, Egeo G, Manfredi M, Dallapiccola B, Giallonardo AT. 2003. Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism. Ann Neurol 53:396-399 [Erratum in: Ann Neurol. 2003;54:137].
42. Poza JJ, Saenz A, Martinez-Gil A, Cheron N, Cobo AM, Urtasun M, Marti-Masso JF, Grid D, Beckmann JS, Prud'homme JF, Lopez de Munain A. 1999. Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q. Ann Neurol 45:182-188.
43. Ribeiro PAO, Sbragia L, Gilioli R, Langone F, Conte FF, Lopes-Cendes I. 2008. Expression profile of Lgi1 gene in mouse brain during development. J Mol Neurosci 35:323-329.
44. Rosanoff MJ, Ottman R. 2008. Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 71:567-571.
45. Scheel H, Tomiuk S, Hofmann K. 2002. A common protein interaction domain links to recently identified epilepsy genes. Hum Mol Genet 11:1757-1762.
46. Schulte U, Thumfart JO, Klocker N, Sailer CA, Bildl W, Biniossek M, Dehn D, Deller T, Eble S, Abbass K, Wangler T, Knaus HG, Fakler B. 2006. The epilepsy-linked Lgi1 protein assembles into presynaptic kv1 channels and inhibits inactivation by Kvbeta1. Neuron 49:697-706.
47. Senechal KR, Thaller C, Noebels JL. 2005. ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. Hum Mol Genet 14:1613-1620.
48. Sirerol-Piquer MS, Ayerdi-Izquierdo A, Morante-Redolat JM, Herranz-Perez V, Favell K, Barker PA, Perez-Tur J. 2006. The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface. Hum Mol Genet 15:3436-3445.
49. Somerville RP, Chernova O, Liu S, Shoshan Y, Cowell JK. 2000. Identification of the promoter, genomic structure, and mouse ortholog of LGI1. Mamm Genome 11:622-627.
50. Staub E, Perez-Tur J, Siebert R, Nobile C, Moschonas NK, Deloukas P, Hinzmann B. 2002. The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders. Trends Biochem Sci 27:441-444.
51. Striano P, de Falco A, Diani E, Bovo G, Furlan S, Vitiello L, Pinardi F, Striano S, Michelucci R, de Falco AF, Nobile C. 2008. A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy. Arch Neurol 65:939-942.
52. Tessa C, Michelucci R, Nobile C, Giannelli M, Della Nave R, Testoni S, Bianucci D, Tinuper P, Bisulli F, Sofia V, De Feo MR, Giallonardo AT, Tassinari CA, Mascalchi M. 2007. Structural anomaly of left lateral temporal lobe in epilepsy due to mutated LGI1. Neurology. 69:1298-1300.
53. Winawer MR, Martinelli Boneschi F, Barker-Cummings C, Lee JH, Liu J, Mekios C, Gilliam TC, Pedley TA, Hauser WA, Ottman R. 2002. Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24. Epilepsia 43:60-67.