Journal of Pediatric Epilepsy, Inhaltsverzeichnis Journal of Pediatric Epilepsy 2016; 05(01): 037-041DOI: 10.1055/s-0035-1567850 Case Report Georg Thieme Verlag KG Stuttgart · New York A Novel KCNQ2 Mutation in a Child with Benign Familial Neonatal Seizures and Rolandic Epilepsy Louis N. Manganas 1 Department of Neurology, Yale University School of Medicine, New Haven, Connecticut, United States 2 Department of Neurology, Stony Brook University Medical Center, Stony Brook, New York, United States , Anna M. Szekely 1 Department of Neurology, Yale University School of Medicine, New Haven, Connecticut, United States 3 Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, United States , Richard H. Mattson 1 Department of Neurology, Yale University School of Medicine, New Haven, Connecticut, United States › Institutsangaben Artikel empfehlen Abstract Artikel einzeln kaufen Abstract Voltage-gated potassium channel gene mutations in KCNQ2 and KCNQ3 α subunits may result in benign familial neonatal seizure (BFNS). Previous reports have implicated KCNQ2 mutations in patients with BFNS who later developed rolandic epilepsy (RE). We describe an 8-year-old boy with BFNS who developed RE. A three-generation pedigree showed multiple individuals presenting with seizures within the first days of life. Whole exome sequencing in this patient revealed a novel mutation in the KCNQ2 pore region. To our knowledge, this is the first report of BFNS with RE described with a KCNQ2 mutation localizing to the pore domain. Keywords Keywords KCNQ2 - genetics - seizures - familial - rolandic Volltext Referenzen References 1 Ronen GM, Rosales TO, Connolly M, Anderson VE, Leppert M. 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