title: Lack of pathogenic mutations in six patients with MMPSI.
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.
authors: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Baronissi, Italy; Fondazione IRCCS SDN, 80143 Napoli, Italy.
authors: Maria Rosaria
authors: MR
authors: De Filippo
authors: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Baronissi, Italy.
authors: Francesca
authors: F
authors: Rizzo
authors: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Baronissi, Italy.
authors: Giovanna
authors: G
authors: Marchese
authors: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Baronissi, Italy.
authors: Giorgio
authors: G
authors: Giurato
authors: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Baronissi, Italy.
authors: Giovanni
authors: G
authors: Nassa
authors: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Baronissi, Italy.
authors: Maria
authors: M
authors: Ravo
authors: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Baronissi, Italy.
authors: Roberta
authors: R
authors: Tarallo
authors: Child and Adolescent Neuropsychiatry, Department of Medicine and Surgery and "SS. Giovanni di Dio e Ruggi d'Aragona - Schola Medica Salernitana" Hospital of the University of Salerno, Salerno, Italy.
authors: Erica
authors: E
authors: Pironti
authors: Pediatric Neurology and Clinical Neurophysiology Unit, Department of Pediatrics, University of Padova, Italy.
authors: Marilena
authors: M
authors: Vecchi
authors: Deparment of Pediatrics DPMSC, University of Udine, Udine, Italy.
authors: Giovanni
authors: G
authors: Crichiutti
authors: Child and Adolescent Neuropsychiatry, Department of Pediatrics, University of Turin, Turin, Italy.
authors: Giorgio
authors: G
authors: Capizzi
authors: Department of Pediatrics, University of Chieti, Chieti, Italy.
authors: Alberto
authors: A
authors: Verrotti
authors: Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Baronissi, Italy; Molecular Pathology and Medical Genomics, "SS. Giovanni di Dio e Ruggi d'Aragona - Schola Medica Salernitana" Hospital of the University of Salerno, Salerno, Italy.
authors: Alessandro
authors: A
authors: Weisz
authors: Child and Adolescent Neuropsychiatry, Department of Medicine and Surgery and "SS. Giovanni di Dio e Ruggi d'Aragona - Schola Medica Salernitana" Hospital of the University of Salerno, Salerno, Italy. Electronic address: gcoppola@unisa.it.
authors: Giangennaro
authors: G
authors: Coppola
mesh_terms: D002352:Carrier Proteins / Q000235:genetics; D004828:Epilepsies, Partial / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D020690:GTPase-Activating Proteins; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D010641:Phenotype; D054799:Phospholipase C beta / Q000235:genetics; D015221:Potassium Channels / Q000235:genetics; D000081033:Potassium Channels, Sodium-Activated; D017384:Sequence Deletion
chemical_list: D002352:Carrier Proteins; D020690:GTPase-Activating Proteins; C585122:KCNT1 protein, human; D008565:Membrane Proteins; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; D015221:Potassium Channels; D000081033:Potassium Channels, Sodium-Activated; C568242:SCN1A protein, human; C552551:TBC1D24 protein, human; C518033:PLCB1 protein, human; D054799:Phospholipase C beta
keywords: KCNT1; MMPSI; PLCB1; SCN1A; TBC1D24; Targeted re-sequencing