Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

Epilepsy Research

Volumn 76, Issue 1, 2007, Pages 41-48

  Chabrol, Elodie ^a,b   Gourfinkel An, Isabelle ^a,b   Scheffer, Ingrid E ^c   Picard, Fabienne ^d   Couarch, Philippe ^a,b   Berkovic, Samuel F ^c   McMahon, Jacinta M ^c   Bajaj, Nandita ^e   Mota Vieira, Luisa ^f   Mota, Rui ^f   Trouillard, Oriane ^a   Depienne, Christel ^a,b   Baulac, Michel ^a   LeGuern, Eric ^a,b   Baulac, Stéphanie ^a,b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^e Siddharth Hospital Ltd   (Nepal)

^f HOSPITAL DO DIVINO ESPÍRITO SANTO   (Portugal)

Author keywords

ADAM22; Autosomal dominant lateral temporal epilepsy; Genetics; LGI1

Indexed keywords

ADAM22 GENE; ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; DNA FLANKING REGION; DNA POLYMORPHISM; EXON; FEMALE; GENE; GENE MUTATION; HUMAN; INTRON; LEUCINE RICH GLIOMA INACTIVATED 1 GENE; MALE; PRIORITY JOURNAL; TEMPORAL LOBE EPILEPSY;

ADAM PROTEINS; ADOLESCENT; ADULT; CHILD; DNA MUTATIONAL ANALYSIS; EPILEPSY, TEMPORAL LOBE; FAMILY HEALTH; FEMALE; GENETIC SCREENING; HUMANS; MALE; MUTATION; NERVE TISSUE PROTEINS;

EID: 34547812648     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2007.06.014     Document Type: Article

References (25)

1. Berkovic S.F., Izzillo P., McMahon J.M., Harkin L.A., McIntosh A.M., Phillips H.A., et al. LGI1 mutations in temporal lobe epilepsies. Neurology 62 (2004) 1115-1119
2. Bisulli F., Tinuper P., Marini C., Avoni P., Carraro G., and Nobile C. Partial epilepsy with prominent auditory symptoms not linked to chromosome 10q. Epileptic Disord. 4 (2002) 183-187
3. Bisulli F., Tinuper P., Scudellaro E., Naldi I., Bagattin A., Avoni P., et al. A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. Ann. Neurol. 56 (2004) 455-456
4. Brodtkorb E., Gu W., Nakken K.O., Fischer C., and Steinlein O.K. Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24. Epilepsia 43 (2002) 228-235
5. Brodtkorb E., Michler R.P., Gu W., and Steinlein O.K. Speech-induced aphasic seizures in epilepsy caused by LGI1 mutation. Epilepsia 46 (2005) 963-966
6. Chabrol E., Popescu C., Gourfinkel-An I., Trouillard O., Depienne C., Senechal K., et al. Two novel epilepsy-linked mutations leading to a loss of function of LGI1. Arch. Neurol. 64 (2007) 217-222
7. Fertig E., Lincoln A., Martinuzzi A., Mattson R.H., and Hisama F.M. Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. Neurology 60 (2003) 1687-1690
8. Fukata Y., Adesnik H., Iwanaga T., Bredt D.S., Nicoll R.A., and Fukata M. Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. Science 313 (2006) 1792-1795
9. Gu W., Brodtkorb E., and Steinlein O.K. LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. Ann Neurol 52 (2002) 364-367
10. Gu W., Wevers A., Schroder H., Grzeschik K.H., Derst C., Brodtkorb E., et al. The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins. FEBS Lett. 519 (2002) 71-76
11. Hauser W.A. The prevalence and incidence of convulsive disorders in children. Epilepsia 35 Suppl 2 (1994) S1-S6
12. Hedera P., Abou-Khalil B., Crunk A.E., Taylor K.A., Haines J.L., and Sutcliffe J.S. Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene. Epilepsia 45 (2004) 218-222
13. Ikeda A., Kunieda T., Miyamoto S., Fukuyama H., and Shibasaki H. Autosomal dominant temporal lobe epilepsy in a Japanese family. J. Neurol. Sci. 176 (2000) 162-165
14. Kalachikov S., Evgrafov O., Ross B., Winawer M., Barker-Cummings C., Martinelli Boneschi F., et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat. Genet. 30 (2002) 335-341
15. Kobayashi E., Santos N.F., Torres F.R., Secolin R., Sardinha L.A., Lopez-Cendes I., et al. Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras. Arch. Neurol. 60 (2003) 1546-1551
16. Michelucci R., Poza J.J., Sofia V., de Feo M.R., Binelli S., Bisulli F., et al. Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. Epilepsia 44 (2003) 1289-1297
17. Morante-Redolat J.M., Gorostidi-Pagola A., Piquer-Sirerol S., Saenz A., Poza J.J., Galan J., et al. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum. Mol. Genet. 11 (2002) 1119-1128
18. Ottman R., Risch N., Hauser W.A., Pedley T.A., Lee J.H., Barker-Cummings C., et al. Localization of a gene for partial epilepsy to chromosome 10q. Nat. Genet. 10 (1995) 56-60
19. Ottman R., Winawer M.R., Kalachikov S., Barker-Cummings C., Gilliam T.C., Pedley T.A., et al. LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 62 (2004) 1120-1126
20. Pisano T., Marini C., Brovedani P., Brizzolara D., Pruna D., Mei D., et al. Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation. Epilepsia 46 (2005) 118-123
21. Pizzuti A., Flex E., Di Bonaventura C., Dottorini T., Egeo G., Manfredi M., et al. Epilepsy with auditory features: A LGI1 gene mutation suggests a loss-of-function mechanism. Ann. Neurol. 53 (2003) 396-399
22. Poza J.J., Saenz A., Martinez-Gil A., Cheron N., Cobo A.M., Urtasun M., et al. Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q. Ann. Neurol. 45 (1999) 182-188
23. Sagane K., Hayakawa K., Kai J., Hirohashi T., Takahashi E., Miyamoto N., et al. Ataxia and peripheral nerve hypomyelination in ADAM22-deficient mice. BMC Neurosci. 6 (2005) 33
24. Winawer M.R., Martinelli Boneschi F., Barker-Cummings C., Lee J.H., Liu J., Mekios C., et al. Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24. Epilepsia 43 (2002) 60-67
25. Winawer M.R., Ottman R., Hauser W.A., and Pedley T.A. Autosomal dominant partial epilepsy with auditory features: defining the phenotype. Neurology 54 (2000) 2173-2176