Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

Human Molecular Genetics

Volumn 11, Issue 9, 2002, Pages 1119-1128

  Morante Redolat, José M ^a   Gorostidi Pagola, Ana ^a,b   Piquer Sirerol, Salomé ^a   Sáenz, Amets ^b   Poza, Juan J ^b   Galán, Juan ^c   Gesk, Stefan ^d   Sarafidou, Theologia ^e   Mautner, Victor F ^f   Binelli, Simona ^g   Staub, Eike ^h   Hinzmann, Bernd ^h   French, Lisa ⁱ   Prud'homme, Jean F ^j   Passarelli, Daniela ^k   Scannapieco, Paolo ^l   Tassinari, Carlo A ^m   Avanzini, Giuliano ^h   Martí Massó, José F ^b   Kluwe, Lan ⁿ   Deloukas, Panagiotis ⁱ   Moschonas, Nicholas K ^e   Michelucci, Roberto ^m   Siebert, Reiner ^d   Nobile, Carlo ^o   Pérez Tur, Jordi ^a   De Munain, Adolfo López ^b   more..

^a INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^b HOSPITAL DONOSTIA   (Spain)

^c HOSPITAL UNIVERSITARIO DE VALME   (Spain)

^d UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^e INSTITUTE OF MOLECULAR BIOLOGY AND BIOTECHNOLOGY   (Greece)

^f UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^g DEPARTMENT OF NEUROSURGERY   (Italy)

^h MetaGen Gesellschaft für Genomforschung m b H   (Germany)

ⁱ WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^j GÉNÉTHON   (France)

^k Infermi Hospital   (Italy)

^l UNIVERSITY OF PADOVA   (Italy)

^m UNIVERSITY OF BOLOGNA   (Italy)

ⁿ Klinikum Nord   (Germany)

^o CNR   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN PROTEIN; EPITEMPIN; LEUCINE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 10Q; CONTROLLED STUDY; EPILEPTIC AURA; FOCAL EPILEPSY; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; NERVE CELL; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; STOP CODON; TEMPORAL LOBE EPILEPSY;

EID: 18344363561     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.9.1119     Document Type: Article

References (16)

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2. Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large Basque pedigree linked to chromosome 10q
3. Expression analysis of 21 transcripts physically anchored within the chromosomal region 10q24
4. Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia
5. A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors
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11. Supporting evidence of a gene for partial epilepsy on 10q
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13. Genes and mutations in idiopathic epilepsy
14. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
15. SMART, a simple modular architecture research tool: Identification of signaling domains
16. Recent improvements to the SMART domain-based sequence annotation resource