Autosomal Dominant Lateral Temporal Epilepsy: Clinical Spectrum, New Epitempin Mutations, and Genetic Heterogeneity in Seven European Families

Epilepsia

Volumn 44, Issue 10, 2003, Pages 1289-1297

  Michelucci, Roberto ^a,l   Poza, Juan Jose ^b   Sofia, Vito ^c   De Feo, Maria Rita ^d   Binelli, Simona ^e   Bisulli, Francesca ^a   Scudellaro, Evan ^f   Simionati, Barbara ^f   Zimbello, Rosanna ^f   D'Orsi, Giuseppe ^a   Passarelli, Daniela ^g   Avoni, Patrizia ^a   Avanzini, Giuliano ^e   Tinuper, Paolo ^a   Biondi, Roberto ^b   Valle, Giorgio ^f   Mautner, Victor F ^h   Stephani, Ulrich ^h   Tassinari, Carlo Alberto ^a   Moschonas, Nicholas K ⁱ   Siebert, Reiner ^j   Lopez de Munain, Adolpho ^b   Perez Tur, Jordi ^k   Nobile, Carlo ^f   more..

^a UNIVERSITY OF BOLOGNA   (Italy)

^b HOSPITAL DONOSTIA   (Spain)

^c UNIVERSITY OF CATANIA   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f UNIVERSITY OF PADOVA   (Italy)

^g Ospedale per gli Infermi di Faenza   (Italy)

^h UNIVERSITY OF KIEL   (Germany)

ⁱ INSTITUTE OF MOLECULAR BIOLOGY AND BIOTECHNOLOGY   (Greece)

^j UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^k INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^l BELLARIA HOSPITAL   (Italy)

more..

Author keywords

Auditory features; Autosomal dominant lateral temporal epilepsy; LGI1 Epitempin gene; Missense mutations

Indexed keywords

ADENINE; ANTICONVULSIVE AGENT; CYTOSINE; MICROSATELLITE DNA; THYMINE;

AMINO ACID SUBSTITUTION; ANAMNESIS; ANTICONVULSANT THERAPY; APHASIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 10Q; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DNA DETERMINATION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAM; EPILEPTIC AURA; EUROPE; EXON; FAMILIAL DISEASE; FAMILY HISTORY; FOCAL EPILEPSY; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; LINKAGE ANALYSIS; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SYMPTOM; TEMPORAL LOBE EPILEPSY;

ADOLESCENT; ADULT; CHILD; EPILEPSY, TEMPORAL LOBE; EUROPE; FEMALE; GENES, DOMINANT; GENETIC HETEROGENEITY; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION; PEDIGREE; PROTEINS;

EID: 0142136078     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1528-1157.2003.20003.x     Document Type: Article

References (26)

1. Ottman R, Risch N, Hauser WA, et al. Localization of a gene for partial epilepsy to chromosome 10q. Nat Genet 1995;10:56-60.
2. Poza JJ, Sáenz A, Martínez-Gil A, et al. Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q. Ann Neurol 1999;45:182-8.
3. Brodtkorb E, Gu W, Nakken KO, et al. Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24. Epilepsia 2002;43:228-35.
4. Mautner VF, Lindenau M, Gottesleben A, et al. Supporting evidence of a gene for partial epilepsy on 10q. Neurogenetics 2000;3:31-4.
5. Michelucci R, Passarelli D, Pitzalis S, et al. Autosomal dominant partial epilepsy with auditory features: description of a new family. Epilepsia 2000;41:967-70
6. Winaver MR, Martinelli Boneschi F, Barker-Cummings C, et al. Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24. Epilepsia 2002;43:60-7.
7. Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, et al. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet 2002;11:1119-28.
8. Kalachikov S, Evgrafov O, Ross B, et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 2002;30:335-41.
9. Gu W, Brodtkorb E, Steinlein OK. LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. Ann Neurol 2002;52:364-7.
10. Chernova OB, Somerville RPT, Cowell JK. A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors. Oncogene 1998;17:2873-81.
11. Kobe B, Kajava AV. The leucine-rich repeat as a protein recognition motif. Curr Opin Struct Biol 2001;11:725-32.
12. Staub E, Perez-Tur J, Siebert R, et al. The novel EPTP repeat defines a superfamily of proteins with implications in epileptic disorders. Trends Biochem Sci 2002;27:441-4.
13. Paoli M. Protein folds propelled by diversity. Prog Biophys Mol Biol 2001;76:103-30.
14. Pizzuti A, Flex E, Di Bonaventura C, et al. Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism. Ann Neurol 2003;53:396-9.
15. Ottman R. Progress in the genetics of the partial epilepsies. Epilepsia 2001;42(suppl 5):24-30.
16. Dib C, Faure S, Fizames C, et al. Comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 1996;380:152-4.
17. Winawer MR, Ottman R, Hauser A, et al. Autosomal dominant partial epilepsy with auditory features: defining the phenotype. Neurology 2000;54:2173-6.
18. Ikeda A, Kunieda T, Miyamoto S, et al. Autosomal dominant temporal lobe epilepsy in a Japanese family. J Neurol Sci 2000;176:162-5.
19. Kanemoto K, Kawasaki J. Familial aphasic episodes: another variant of partial epilepsy with simple inheritance? Epilepsia 2000;41:1036-8.
20. Wallace RH, Izzillo P, Maclntosh AM, et al. Mutations in LGI1 in an Australian family with temporal lobe epilepsy with auditory features. Am J Hum Genet 2002;71(suppl ASHG 2002 Meeting):abs 1766.
21. Bisulli F, Tinuper P, Marini C, et al. Partial epilepsy with prominent auditory symptoms: study of a family not linked to chromosome 10q. Epileptic Disord 2002;4:183-9.
22. Scheel H, Tomiuk S, Hofmann K. A common protein interaction domain links to recently identified epilepsy genes. Hum Mol Genet 2002;11:1757-62.
23. Gu W, Wevers A, Schroeder H, et al. The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins. FEBS Lett 2002;519:71-6.
24. Buchanan SG, Gay NJ. Structural and functional diversity in the leucine-rich repeat family of proteins. Prog Biophys Molec Biol 1996;65:1-44.
25. Vicente V, Houghten R, Ruggeri Z. Identification of a site in the alpha chain of platelet glycoprotein Ib that participates in von Willebrand factor binding. J Biol Chem 1990;265:274-80.
26. Schneider D, Hudson K, Lin T, et al. Dominant and recessive mutations define functional domains of Toll, a transmembrane protein required for dorsal-ventral polarity in the Drosophila embryo. Gene Dev 1991;5:797-807.