title: Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.
abstract: BACKGROUND
  More than half of patients with genetic leukoencephalopathies remain without a specific diagnosis; this is particularly true in individuals with a likely primary neuronal etiology, such as those in which abnormal white matter occurs in combination with severe epilepsy.
  
  
  METHODS
  A child with a severe early infantile epileptic encephalopathy and abnormal myelination underwent whole exome sequencing.
  
  
  RESULTS
  Whole exome sequencing identified a heterozygous de novo mutation in KCNT1, a sodium-gated potassium channel gene.
  
  
  CONCLUSIONS
  Severely delayed myelination was anecdotally reported in previous patients with KCNT1 mutations. This case reinforces that KCNT1 sequencing should be included in an investigation of patients with severely delayed myelination and epilepsy.
authors.affiliation: Department of Neurology, Children's National Medical Center, Washington, DC. Electronic address: avanderv@childrensnational.org.
authors.forename: Adeline
authors.initials: A
authors.lastname: Vanderver
authors.affiliation: Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia.
authors.forename: Cas
authors.initials: C
authors.lastname: Simons
authors.affiliation: Department of Neurology, Children's National Medical Center, Washington, DC.
authors.forename: Johanna L
authors.initials: JL
authors.lastname: Schmidt
authors.affiliation: Department of Neurology, Children's National Medical Center, Washington, DC.
authors.forename: Philip L
authors.initials: PL
authors.lastname: Pearl
authors.affiliation: Department of Pediatrics, Children's National Medical Center, Washington, DC.
authors.forename: Miriam
authors.initials: M
authors.lastname: Bloom
authors.affiliation: Department of Neurology, Children's National Medical Center, Washington, DC.
authors.forename: Bennett
authors.initials: B
authors.lastname: Lavenstein
authors.affiliation: Queensland Centre for Medical Genomics, Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia.
authors.forename: David
authors.initials: D
authors.lastname: Miller
authors.affiliation: Queensland Centre for Medical Genomics, Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia.
authors.forename: Sean M
authors.initials: SM
authors.lastname: Grimmond
authors.affiliation: Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia. Electronic address: r.taft@uq.edu.au.
authors.forename: Ryan J
authors.initials: RJ
authors.lastname: Taft
mesh_terms: D002648:Child; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000235:genetics*; D006801:Humans; D056784:Leukoencephalopathies / Q000150:complications* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008958:Models, Molecular; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D015221:Potassium Channels / Q000235:genetics*; D000081033:Potassium Channels, Sodium-Activated
chemical_list: C585122:KCNT1 protein, human; D009419:Nerve Tissue Proteins; D015221:Potassium Channels; D000081033:Potassium Channels, Sodium-Activated
keywords: KCNT1; delayed myelination; leukoencephalopathy; myoclonic