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

Guipponi, Michel ; Rivier, François ; Vigevano, Federico ; Beck, Corinne ; Crespel, Arielle ; Echenne, Bernard ; Lucchini, Pierpaolo ; Sebastianelli, Rosella ; Baldy-Moulinier, Michel ; Malafosse, Alain

In: Human Molecular Genetics, 1997, vol. 6, no. 3, p. 473-477

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    Titre
    • Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q
    Auteur
    • Guipponi, Michel. aboratory of Experimental Medicine, CNRS UPR 9008, INSERM U249, Montpellier, France
    • Rivier, François. aboratory of Experimental Medicine, CNRS UPR 9008, INSERM U249, Montpellier, France
    • Vigevano, Federico. Section of Neurophysiology, Bambino Gesu Children's Hospital, Rome, Italy
    • Beck, Corinne. aboratory of Experimental Medicine, CNRS UPR 9008, INSERM U249, Montpellier, France
    • Crespel, Arielle. aboratory of Experimental Medicine, CNRS UPR 9008, INSERM U249, Montpellier, France
    • Echenne, Bernard. Department of Neuropediatrics, Gui-de-Chauliac Hospital, Montpellier, France
    • Lucchini, Pierpaolo. General Hospital, Treviso, Italy and
    • Sebastianelli, Rosella. Section of Neurophysiology, Bambino Gesu Children's Hospital, Rome, Italy
    • Baldy-Moulinier, Michel. aboratory of Experimental Medicine, CNRS UPR 9008, INSERM U249, Montpellier, France
    • Malafosse, Alain. aboratory of Experimental Medicine, CNRS UPR 9008, INSERM U249, Montpellier, France
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • Human Molecular Genetics, 1997, vol. 6, no. 3, p. 473-477. Oxford University Press
    Autre version électronique
    Classification
    • Santé
    Identifiant OAI-PMH
    • oai:doc.rero.ch:297434
    Summary
    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