Literature DB >> 8154876

Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene.

A Malafosse1, C Beck, H Bellet, M Di Capua, O Dulac, B Echenne, L Fusco, P Lucchini, S Ricci, R Sebastianelli.   

Abstract

Benign infantile familial convulsions (BIFC) and benign familial neonatal convulsions (BFNC) are two forms of familial convulsions having an age of onset within the first year of life. The gene responsible for BFNC has been mapped to chromosome 20q in the close vicinity of D20S19 and D20S20 markers. We performed linkage analysis between BIFC and D20S19-D20S20 in eight families in order to know whether the BFNC gene is also implicated in BIFC. Several apparent obligate crossovers between affected members were detected. The data here presented demonstrate that the BFNC gene is not responsible for BIFC.

Entities:  

Mesh:

Substances:

Year:  1994        PMID: 8154876     DOI: 10.1002/ana.410350417

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  2 in total

1.  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

2.  Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2.

Authors:  Xihui Zhou; Aiqun Ma; Xiaohong Liu; Chen Huang; Yanmin Zhang; Ruiming Shi; Shiwei Mao; Tao Geng; Shengbin Li
Journal:  Eur J Pediatr       Date:  2006-05-12       Impact factor: 3.183

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.