1. Lack of pathogenic mutations in six patients with MMPSI
- Author
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Roberta Tarallo, Giorgio Giurato, Alessandro Weisz, Giovanni Nassa, Marilena Vecchi, Giangennaro Coppola, Francesca Rizzo, Erica Pironti, Maria Ravo, Alberto Verrotti, Giovanna Marchese, Giorgio Capizzi, Maria R. De Filippo, and Giovanni Crichiutti
- Subjects
Male ,PLCB1 ,Potassium Channels ,KCNT1 ,KCNT1, MMPSI, PLCB1, SCN1A, Targeted re-sequencing, TBC1D24 ,Phospholipase C beta ,Nerve Tissue Proteins ,Disease ,Epilepsies ,Potassium Channels, Sodium-Activated ,Biology ,Epilepsy ,symbols.namesake ,MMPSI ,medicine ,Humans ,SCN1A ,Targeted re-sequencing ,TBC1D24 ,Carrier Proteins ,Epilepsies, Partial ,Female ,Genetic Variation ,Infant ,Mutation ,NAV1.1 Voltage-Gated Sodium Channel ,Phenotype ,Sequence Deletion ,Neurology ,Neurology (clinical) ,Gene ,Sequence (medicine) ,Sanger sequencing ,Genetics ,partial seizures ,GTPase-Activating Proteins ,Membrane Proteins ,medicine.disease ,symbols ,Partial - 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.
- Published
- 2014