title: CDKL5 variant in a boy with infantile epileptic encephalopathy: case report.
abstract: A Chinese boy presented at 18 months with intractable epilepsy, developmental delay and autistic features. He had multiple seizure types, including absence, myoclonic seizures, limb spasm and tonic seizures. His seizures were finally controlled at 3 years of age with clonazepam and a short course of chloral hydrate incidentally given for his insomnia. Subsequently, he had improvement in his communication skills.
  
  
  RESULTS
  A novel hemizygous missense variant (c.1649G>A; p.R550Q) in exon 12 of CDKL5 gene was detected for him, his asymptomatic mother and elder sister. His phenotype is less severe than other male cases.
  
  
  CONCLUSIONS
  We recommend screening CDKL5 for boys with pharmarco-resistant epilepsy and a trial of benzodiazepines for Infantile Epileptic Encephalopathy (IEE).
authors.affiliation: Division of Paediatric Neurology/Developmental Behavioural Paediatrics/NeuroHabilitation, Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region. Electronic address: vcnwong@hku.hk.
authors.forename: Virginia Chun-Nei
authors.initials: VC
authors.lastname: Wong
authors.affiliation: Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region.
authors.forename: Anna Ka-Yee
authors.initials: AK
authors.lastname: Kwong
mesh_terms: D000927:Anticonvulsants / Q000009:adverse effects / Q000627:therapeutic use; D044466:Asian People / Q000235:genetics; D000067877:Autism Spectrum Disorder / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D001569:Benzodiazepines / Q000009:adverse effects / Q000627:therapeutic use; D002681:China; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D003937:Diagnosis, Differential; D004351:Drug Resistance / Q000235:genetics; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012640:Seizures / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology
chemical_list: D000927:Anticonvulsants; D001569:Benzodiazepines; D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human
keywords: Anti-epileptic drugs; Benzodiazepines; CDKL5-epileptic encephalopathy; Chloral hydrate; Infantile Epileptic Encephalopathy (IEE); Intractable epilepsy