Literature DB >> 9384604

Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest.

E W Johnson1, J Dubovsky, S S Rich, C A O'Donovan, H T Orr, V E Anderson, A Gil-Nagel, P Ahmann, C G Dokken, D T Schneider, J L Weber.   

Abstract

Febrile convulsions are a common form of childhood seizure. It is estimated that between 2 and 5% of children will have a febrile convulsion before the age of 5. It has long been recognized that there is a significant genetic component for susceptibility to this type of seizure. Wallace, Berkovic and co-workers recently reported linkage of a putative autosomal dominant febrile convulsion gene to chromosome 8q13-21. We report here another autosomal dominant febrile convulsion locus on chromosome 19p. Linkage analysis in this large multi-generational family gave a maximum pairwise lod score of 4.52 with marker Mfd120 at locus D19S177. Linkage to the chromosome 8 locus was excluded in this family. Haplotype analysis using both affected and unaffected family members indicates that this febrile convulsion gene, which we call FEB2 , can be localized to an 11.7 cM, 1-2 Mb section of chromosome 19p13.3, between loci D19S591 and D19S395.

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Year:  1998        PMID: 9384604     DOI: 10.1093/hmg/7.1.63

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  31 in total

1.  Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

Authors:  B Moulard; M Guipponi; D Chaigne; D Mouthon; C Buresi; A Malafosse
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

Review 2.  Genetics of childhood epilepsy.

Authors:  R Robinson; M Gardiner
Journal:  Arch Dis Child       Date:  2000-02       Impact factor: 3.791

3.  Comparative maps of human 19p13.3 and mouse chromosome 10 allow identification of sequences at evolutionary breakpoints.

Authors:  R Puttagunta; L A Gordon; G E Meyer; D Kapfhamer; J E Lamerdin; P Kantheti; K M Portman; W K Chung; D E Jenne; A S Olsen; M Burmeister
Journal:  Genome Res       Date:  2000-09       Impact factor: 9.043

4.  A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33.

Authors:  Xiao-Hua Dai; Wen-Wu Chen; Xu Wang; Qi-Hui Zhu; Cong Li; Lin Li; Mu-Gen Liu; Qing-K Wang; Jing-Yu Liu
Journal:  Hum Genet       Date:  2008-10-02       Impact factor: 4.132

5.  Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.

Authors:  H A Phillips; I E Scheffer; K M Crossland; K P Bhatia; D R Fish; C D Marsden; S J Howell; J B Stephenson; J Tolmie; G Plazzi; O Eeg-Olofsson; R Singh; I Lopes-Cendes; E Andermann; F Andermann; S F Berkovic; J C Mulley
Journal:  Am J Hum Genet       Date:  1998-10       Impact factor: 11.025

Review 6.  Epilepsy genetics--past, present, and future.

Authors:  Annapurna Poduri; Daniel Lowenstein
Journal:  Curr Opin Genet Dev       Date:  2011-01-27       Impact factor: 5.578

Review 7.  Mutations affecting GABAergic signaling in seizures and epilepsy.

Authors:  Aristea S Galanopoulou
Journal:  Pflugers Arch       Date:  2010-03-30       Impact factor: 3.657

8.  Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation.

Authors:  Liesbet Deprez; Lieve R F Claes; Kristl G Claeys; Dominique Audenaert; Tine Van Dyck; Dirk Goossens; Wim Van Paesschen; Jurgen Del-Favero; Christine Van Broeckhoven; Peter De Jonghe
Journal:  Hum Genet       Date:  2005-11-05       Impact factor: 4.132

9.  Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures.

Authors:  Sarah Jamali; Annick Salzmann; Nader Perroud; Magali Ponsole-Lenfant; Jennifer Cillario; Patrice Roll; Nathalie Roeckel-Trevisiol; Ariel Crespel; Jorg Balzar; Kurt Schlachter; Ursula Gruber-Sedlmayr; Ekaterina Pataraia; Christoph Baumgartner; Alexander Zimprich; Fritz Zimprich; Alain Malafosse; Pierre Szepetowski
Journal:  PLoS One       Date:  2010-09-16       Impact factor: 3.240

Review 10.  Febrile seizures.

Authors:  Leena D Mewasingh
Journal:  BMJ Clin Evid       Date:  2008-05-22
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