@article{3106383,
    title = "A novel de novo KCNQ2 mutation in a child with treatment-resistant early-onset epileptic encephalopathy",
    author = "Benetou, C. and Papailiou, S. and Maritsi, D. and Anagnostopoulou, K. and Kontos, H. and Vartzelis, G.",
    journal = "Turkish Journal of Pediatrics",
    year = "2019",
    volume = "61",
    number = "2",
    pages = "279-281",
    publisher = "Turkish Journal of Pediatrics",
    doi = "10.24953/turkjped.2019.02.020",
    keywords = "carbamazepine;  clobazam;  levetiracetam;  phenobarbital;  phenytoin;  pyridoxal 5 phosphate;  pyridoxine;  voltage gated potassium channel;  DNA;  KCNQ2 protein, human;  potassium channel KCNQ2, Article;  case report;  cerebrospinal fluid;  child;  clinical article;  DNA determination;  electroencephalogram;  gaze;  gene;  gene mutation;  human;  infant;  infantile spasm;  informed consent;  KCNQ2 gene;  ketogenic diet;  Lennox Gastaut syndrome;  male;  missense mutation;  neurologic examination;  nuclear magnetic resonance imaging;  Sanger sequencing;  seizure;  benign childhood epilepsy;  dna mutational analysis;  genetics;  metabolism;  mutation;  newborn;  phenotype, DNA;  DNA Mutational Analysis;  Epilepsy, Benign Neonatal;  Humans;  Infant, Newborn;  KCNQ2 Potassium Channel;  Male;  Mutation;  Phenotype",
    abstract = "Mutations in KCNQ2 gene, encoding for voltage-gated K+ channel subunit, may result in a wide spectrum of early-onset epileptic disorders. The phenotype of the disease varies from “benign familial neonatal seizures” to “severe epileptic encephalopathies”. In this report, we present a novel mutation [namely: c.683A>G (p.His228Arg)], as a presumable cause of severe infantile-onset neonatal seizures, in a 3-month old boy. The seizures have been poorly responsive to various pharmacological treatments, with phenytoin and carbamazepine presenting with the most favourable results so far. The study of our patient could help to further clarify the clinical manifestations of KCNQ2 mutations, revealing a previously unreported mutation. © 2019, Turkish Journal of Pediatrics. All rights reserved."
}