title: Successful Treatment of Electrographic Status Epilepticus of Sleep With Felbamate in a Patient With SLC9A6 Mutation.
abstract: BACKGROUND
  Mutations of SLC9A6 may cause an X-linked clinical syndrome first described by Christianson in 1999 in which affected males exhibited profound intellectual disability, autism, drug-resistant epilepsy, ophthalmoplegia, mild craniofacial dysmorphism, microcephaly, and ataxia.
  
  
  METHODS
  We describe a child with an SLC9A6 mutation and an electroencephalographic pattern consistent with electrographic status epilepticus of sleep.
  
  
  RESULTS
  Our patient's electrographic status epilepticus of sleep resolved after treatment with felbamate. Following treatment, he remained seizure-free but did not make significant or lasting gains in language.
  
  
  CONCLUSIONS
  Our report extends the clinical epilepsy phenotype in children with SLC9A6 mutations to include electrographic status epilepticus of sleep. In addition, felbamate was an effective treatment for electrographic status epilepticus of sleep in our patient.
authors.affiliation: Department of Neurology, Washington University School of Medicine, St. Louis, Missouri; Department of Pediatrics, Baylor College of Medicine, Houston, Texas; Department of Neurology, Baylor College of Medicine, Houston, Texas. Electronic address: coorg@bcm.edu.
authors.forename: Rohini
authors.initials: R
authors.lastname: Coorg
authors.affiliation: Department of Neurology, Washington University School of Medicine, St. Louis, Missouri. Electronic address: weisenbergj@neuro.wustl.edu.
authors.forename: Judith L Z
authors.initials: JL
authors.lastname: Weisenberg
mesh_terms: D000927:Anticonvulsants / Q000008:administration & dosage / Q000494:pharmacology*; D001259:Ataxia / Q000150:complications* / Q000235:genetics; D002648:Child; D004827:Epilepsy / Q000150:complications* / Q000235:genetics; D000078328:Felbamate; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000150:complications* / Q000235:genetics; D015835:Ocular Motility Disorders / Q000150:complications* / Q000235:genetics; D048448:Phenylcarbamates / Q000008:administration & dosage / Q000494:pharmacology*; D011409:Propylene Glycols / Q000008:administration & dosage / Q000494:pharmacology*; D012893:Sleep Wake Disorders / Q000188:drug therapy* / Q000209:etiology / Q000235:genetics; D017923:Sodium-Hydrogen Exchangers / Q000235:genetics*; D013226:Status Epilepticus / Q000188:drug therapy* / Q000209:etiology / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D000927:Anticonvulsants; D048448:Phenylcarbamates; D011409:Propylene Glycols; C445316:SLC9A6 protein, human; D017923:Sodium-Hydrogen Exchangers; D000078328:Felbamate
keywords: Christianson syndrome; ESES; SLC9A6; epilepsy; felbamate