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Brain Dev. 2015 Apr;37(4):446-8. doi: 10.1016/j.braindev.2014.07.003. Epub 2014 Jul 29.

CDKL5 variant in a boy with infantile epileptic encephalopathy: case report.

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  • 1Division 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:
  • 2Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region.


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.


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.


We recommend screening CDKL5 for boys with pharmarco-resistant epilepsy and a trial of benzodiazepines for Infantile Epileptic Encephalopathy (IEE).

Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.


Anti-epileptic drugs; Benzodiazepines; CDKL5-epileptic encephalopathy; Chloral hydrate; Infantile Epileptic Encephalopathy (IEE); Intractable epilepsy

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