Referenced in: none

Automatically associated channels: Slo2

Title: Lack of pathogenic mutations in six patients with MMPSI.

Authors: Maria Rosaria De Filippo, Francesca Rizzo, Giovanna Marchese, Giorgio Giurato, Giovanni Nassa, Maria Ravo, Roberta Tarallo, Erica Pironti, Marilena Vecchi, Giovanni Crichiutti, Giorgio Capizzi, Alberto Verrotti, Alessandro Weisz, Giangennaro Coppola

Journal, date & volume: Epilepsy Res., 2014 Feb , 108, 340-4

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/24315024

Abstract
Sequencing of the KCNT1, PLCB1, SCN1A and TBC1D24 loci was performed in six children with typical features of malignant migrating partial seizures of infancy (MMPSI), to verify the presence of potential disease-causing mutations, including those already reported to be associated with the disease. Sanger sequencing failed to identify in these genes the previously reported pathogenic mutations in these patients, while a comprehensive mutational scanning analysis of these four loci by targeted re-sequencing led to detection of both intronic and exonic new variants. Based on the current knowledge, the sequence variants identified here do not allow to predict functional phenotypes that might explain, at least in part, MMPSI symptoms.