Literature DB >> 9147652

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

M Guipponi1, F Rivier, F Vigevano, C Beck, A Crespel, B Echenne, P Lucchini, R Sebastianelli, M Baldy-Moulinier, A Malafosse.   

Abstract

Benign familial infantile convulsions (BFIC) are an autosomal-dominant epileptic syndrome characterized by an age of onset within the first year of life. Although they were first reported in families of Italian descent, BFIC have also been described in non-Italian families. We have mapped the BFIC gene to chromosome 19 by linkage analysis in five Italian families with a maximum two-point lod score of 6.36 at D19S114; maximum multipoint lod scores > 8 were obtained for the interval D19S250-D19S245. BFIC are therefore the third idiopathic partial epileptic syndrome to be mapped on the human genome.

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Year:  1997        PMID: 9147652     DOI: 10.1093/hmg/6.3.473

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


  21 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.  Search for alpha4 and alpha7 nicotinic acetylcholine receptor markers in a pedigree of benign familial infantile convulsions (BFIC).

Authors:  M B Rauschemberger; C Vecchi; F J Barrantes
Journal:  Neurochem Res       Date:  2002-11       Impact factor: 3.996

4.  [Altered cerebral excitability and spreading depression. Causes for the comorbidity of epilepsy and migraine?].

Authors:  T Leniger; H C Diener; A Hufnagel
Journal:  Nervenarzt       Date:  2003-06-18       Impact factor: 1.214

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

6.  Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.

Authors:  F Zara; E Gennaro; M Stabile; I Carbone; M Malacarne; L Majello; R Santangelo; F A de Falco; F D Bricarelli
Journal:  Am J Hum Genet       Date:  2000-03-30       Impact factor: 11.025

Review 7.  Progress in the genetics of the partial epilepsies.

Authors:  R Ottman
Journal:  Epilepsia       Date:  2001       Impact factor: 5.864

8.  PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

Authors:  Sarah E Heron; Bronwyn E Grinton; Sara Kivity; Zaid Afawi; Sameer M Zuberi; James N Hughes; Clair Pridmore; Bree L Hodgson; Xenia Iona; Lynette G Sadleir; James Pelekanos; Eric Herlenius; Hadassa Goldberg-Stern; Haim Bassan; Eric Haan; Amos D Korczyn; Alison E Gardner; Mark A Corbett; Jozef Gécz; Paul Q Thomas; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer; Leanne M Dibbens
Journal:  Am J Hum Genet       Date:  2012-01-13       Impact factor: 11.025

9.  Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.

Authors:  M Mikami; T Yasuda; A Terao; M Nakamura; S Ueno; H Tanabe; T Tanaka; T Onuma; Y Goto; S Kaneko; A Sano
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

10.  Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy.

Authors:  Wenli Gu; Thomas Sander; Tim Becker; Ortrud K Steinlein
Journal:  Neurogenetics       Date:  2003-09-19       Impact factor: 2.660

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