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Article: CDKL5 variant in a boy with Infantile Epileptic Encephalopathy: Case report

TitleCDKL5 variant in a boy with Infantile Epileptic Encephalopathy: Case report
Authors
Issue Date2015
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/braindev
Citation
Brain & Development, 2015, v. 37 n. 4, p. 446-348 How to Cite?
AbstractA 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. Result: 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. Conclusion: We recommend screening CDKL5 for boys with pharmarco-resistant epilepsy and a trial of benzodiazepines for Infantile Epileptic Encephalopathy (IEE).
Persistent Identifierhttp://hdl.handle.net/10722/203270
ISSN
2015 Impact Factor: 1.785
2015 SCImago Journal Rankings: 0.840

 

DC FieldValueLanguage
dc.contributor.authorWong, VCN-
dc.contributor.authorKwong, AKY-
dc.date.accessioned2014-09-19T13:51:18Z-
dc.date.available2014-09-19T13:51:18Z-
dc.date.issued2015-
dc.identifier.citationBrain & Development, 2015, v. 37 n. 4, p. 446-348-
dc.identifier.issn0387-7604-
dc.identifier.urihttp://hdl.handle.net/10722/203270-
dc.description.abstractA 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. Result: 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. Conclusion: We recommend screening CDKL5 for boys with pharmarco-resistant epilepsy and a trial of benzodiazepines for Infantile Epileptic Encephalopathy (IEE).-
dc.languageeng-
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/braindev-
dc.relation.ispartofBrain & Development-
dc.titleCDKL5 variant in a boy with Infantile Epileptic Encephalopathy: Case report-
dc.typeArticle-
dc.identifier.emailWong, VCN: vcnwong@hku.hk-
dc.identifier.emailKwong, AKY: kkyanna@hku.hk-
dc.identifier.authorityWong, VCN=rp00334-
dc.identifier.doi10.1016/j.braindev.2014.07.003-
dc.identifier.pmid25085838-
dc.identifier.hkuros235368-
dc.identifier.volume37-
dc.identifier.issue4-
dc.identifier.spage446-
dc.identifier.epage348-
dc.publisher.placeNetherlands-

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