Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy.

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作者： Francesca,Rizzo ^[1] ; Paolo,Ambrosino ^[2] ; Anna,Guacci ^[3] ; Massimiliano,Chetta ^[1] ; Giovanna,Marchese ^[3] ; Teresa,Rocco ^[3] ; Maria Virginia,Soldovieri ^[2] ; Laura,Manocchio ^[2] ; Ilaria,Mosca ^[2] ; Gianluca,Casara ^[4] ; Marilena,Vecchi ^[5] ; Maurizio,Taglialatela ^[2] ; Giangennaro,Coppola ^[6] ; Alessandro,Weisz ^[7]

作者单位： Laboratory of Molecular Medicine and Genomics, University of Salerno, Baronissi, (SA), Italy. ^[1] Department of Medicine and Health Sciences "Vincenzo Tiberio", University of Molise, Campobasso, Italy. ^[2] Laboratory of Molecular Medicine and Genomics, University of Salerno, Baronissi, (SA), Italy; Genomix4Life Srl, Department of Medicine and Surgery, University of Salerno, Baronissi, Italy. ^[3] Child Neurology and Neurorehabilitation Unit, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy. ^[4] Clinical Neurophysiology and Epilepsy Unit, Department of Child and Mother Health, University of Padua, Padua, Italy. ^[5] Child and Adolescent Neuropsychiatry, Department of Medicine and Surgery, Salerno, Italy. Electronic address: gcoppola@unisa.it. ^[6] Laboratory of Molecular Medicine and Genomics, University of Salerno, Baronissi, (SA), 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. Electronic address: aweisz@unisa.it. ^[7]

关键词 Early-onset epileptic encephalopathies KCNT1 gene MMPSI Whole exome sequencing Whole-cell electrophysiology