Literature DB >> 14505228

Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy.

Wenli Gu1, Thomas Sander, Tim Becker, Ortrud K Steinlein.   

Abstract

The LGI4 gene is located in a region linked to benign familial infantile convulsions (BFIC) and idiopathic generalized epilepsy. Screening of the LGI4 coding region in BFIC and childhood absence epilepsy (CAE) revealed several frequent exonic polymorphisms. A genotypic association was found for the c.1914GC --> AT polymorphism in 42 CAE patients compared with 110 population controls (chi2 = 6.66, df = 1, P = 0.01), providing evidence for a so far undetected susceptibility allele for CAE in the LGI4 region.

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Year:  2003        PMID： 14505228     DOI： 10.1007/s10048-003-0158-8

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


  9 in total

1.  Genome search for susceptibility loci of common idiopathic generalised epilepsies.

Authors:  T Sander; H Schulz; K Saar; E Gennaro; M C Riggio; A Bianchi; F Zara; D Luna; C Bulteau; A Kaminska; D Ville; C Cieuta; F Picard; J F Prud'homme; L Bate; A Sundquist; R M Gardiner; G A Janssen; G J de Haan; D G Kasteleijn-Nolst-Trenité; A Bader; D Lindhout; O Riess; T F Wienker; D Janz; A Reis
Journal:  Hum Mol Genet       Date:  2000-06-12       Impact factor: 6.150

Review 2.  Using haplotype blocks to map human complex trait loci.

Authors:  Lon R Cardon; Gonçalo R Abecasis
Journal:  Trends Genet       Date:  2003-03       Impact factor: 11.639

3.  Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.

Authors:  Sergey Kalachikov; Oleg Evgrafov; Barbara Ross; Melodie Winawer; Christie Barker-Cummings; Filippo Martinelli Boneschi; Chang Choi; Pavel Morozov; Kamna Das; Elita Teplitskaya; Andrew Yu; Eftihia Cayanis; Graciela Penchaszadeh; Andreas H Kottmann; Timothy A Pedley; W Allen Hauser; Ruth Ottman; T Conrad Gilliam
Journal:  Nat Genet       Date:  2002-01-28       Impact factor: 38.330

Review 4.  Channelopathies can cause epilepsy in man.

Authors:  Ortrud K Steinlein
Journal:  Eur J Pain       Date:  2002       Impact factor: 3.931

5.  Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q.

Authors:  M Guipponi; F Rivier; F Vigevano; C Beck; A Crespel; B Echenne; P Lucchini; R Sebastianelli; M Baldy-Moulinier; A Malafosse
Journal:  Hum Mol Genet       Date:  1997-03       Impact factor: 6.150

6.  Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population.

Authors:  L Excoffier; M Slatkin
Journal:  Mol Biol Evol       Date:  1995-09       Impact factor: 16.240

7.  Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy.

Authors: 
Journal:  Epilepsia       Date:  1989 Jul-Aug       Impact factor: 5.864

8.  The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new subfamily of leucine-rich repeat proteins.

Authors:  Wenli Gu; Andrea Wevers; Hannsjörg Schröder; Karl Heinz Grzeschik; Christian Derst; Eylert Brodtkorb; Rob de Vos; Ortrud K Steinlein
Journal:  FEBS Lett       Date:  2002-05-22       Impact factor: 4.124

9.  A common protein interaction domain links two recently identified epilepsy genes.

Authors:  Hartmut Scheel; Stefan Tomiuk; Kay Hofmann
Journal:  Hum Mol Genet       Date:  2002-07-15       Impact factor: 6.150
  9 in total
  6 in total

1.  Familial clustering of seizure types within the idiopathic generalized epilepsies.

Authors:  M R Winawer; C Marini; B E Grinton; D Rabinowitz; S F Berkovic; I E Scheffer; R Ottman
Journal:  Neurology       Date:  2005-08-23       Impact factor: 9.910

2.  Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy.

Authors:  Peter Kinirons; Daniel Rabinowitz; Micheline Gravel; James Long; Melodie Winawer; Geneviève Sénéchal; Ruth Ottman; Patrick Cossette
Journal:  Epilepsy Res       Date:  2008-08-23       Impact factor: 3.045

3.  Genetic influences on brain gene expression in rats selected for tameness and aggression.

Authors:  Henrike O Heyne; Susann Lautenschläger; Ronald Nelson; François Besnier; Maxime Rotival; Alexander Cagan; Rimma Kozhemyakina; Irina Z Plyusnina; Lyudmila Trut; Örjan Carlborg; Enrico Petretto; Leonid Kruglyak; Svante Pääbo; Torsten Schöneberg; Frank W Albert
Journal:  Genetics       Date:  2014-09-03       Impact factor: 4.562

4.  Molecular cloning and characterization of the family of feline leucine-rich glioma-inactivated (LGI) genes, and mutational analysis in familial spontaneous epileptic cats.

Authors:  Yoshihiko Yu; Daisuke Hasegawa; Aki Fujiwara-Igarashi; Yuji Hamamoto; Shunta Mizoguchi; Takayuki Kuwabara; Michio Fujita
Journal:  BMC Vet Res       Date:  2017-12-13       Impact factor: 2.741

Review 5.  Progress in the molecular mechanisms of genetic epilepsies using patient-induced pluripotent stem cells.

Authors:  Ruijiao Zhou; Guohui Jiang; Xin Tian; Xuefeng Wang
Journal:  Epilepsia Open       Date:  2018-07-08

Review 6.  Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.

Authors:  Sarita Thakran; Debleena Guin; Pooja Singh; Priyanka Singh; Samiksha Kukal; Chitra Rawat; Saroj Yadav; Suman S Kushwaha; Achal K Srivastava; Yasha Hasija; Luciano Saso; Srinivasan Ramachandran; Ritushree Kukreti
Journal:  Int J Mol Sci       Date:  2020-10-21       Impact factor: 5.923
  6 in total

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