Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.

doi:10.1111/j.1528-1167.2006.00521.x

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Article

Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.

Epilepsia - 1 Jun 2006

Striano Pasquale, Lispi Maria Luisa, Gennaro Elena, Madia Francesca, Traverso Monica, Bordo Laura, Aridon Paolo, Martinelli Boneschi Filippo, Barone Baldassare, dalla Bernardina Bernardo, Bianchi Amedeo, Capovilla Giuseppe, De Marco Pasquale, Dulac Olivier, Gaggero Roberto, Gambardella Antonio, Nabbout Rima, Prud'homme Jean-François, Day Ruth, Vanadia Francesca, Vecchi Marilena, Veggiotti Pierangelo, Vigevano Federico, Viri Maurizio, Minetti Carlo, Zara Federico

Abstract excerpt

PURPOSE: Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition characterized by partial seizures, onset age from 3 to 9 months, and favorable outcome. BFIS loci were identified on chromosomes 19q12-13.1 and 16p12-q12, allelic to infantile convulsions and choreathetosis. The identification of SCN2A mutations in families with only infantile seizures indicated that BFNIS and BFIS may...

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PMID: 16822249
DOI: 10.1111/j.1528-1167.2006.00521.x

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