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CDKL5 variant in a boy with infantile epileptic encephalopathy: case report.
- Source :
-
Brain & development [Brain Dev] 2015 Apr; Vol. 37 (4), pp. 446-8. Date of Electronic Publication: 2014 Jul 29. - Publication Year :
- 2015
-
Abstract
- Unlabelled: 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.<br />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.<br />Conclusion: We recommend screening CDKL5 for boys with pharmarco-resistant epilepsy and a trial of benzodiazepines for Infantile Epileptic Encephalopathy (IEE).<br /> (Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)
- Subjects :
- Anticonvulsants adverse effects
Anticonvulsants therapeutic use
Asian People genetics
Autism Spectrum Disorder diagnosis
Autism Spectrum Disorder physiopathology
Benzodiazepines adverse effects
Benzodiazepines therapeutic use
China
Developmental Disabilities diagnosis
Developmental Disabilities physiopathology
Diagnosis, Differential
Drug Resistance genetics
Epilepsy diagnosis
Epilepsy drug therapy
Epilepsy physiopathology
Genetic Variation
Humans
Infant
Male
Mutation, Missense
Seizures diagnosis
Seizures drug therapy
Seizures genetics
Seizures physiopathology
Autism Spectrum Disorder genetics
Developmental Disabilities genetics
Epilepsy genetics
Protein Serine-Threonine Kinases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1872-7131
- Volume :
- 37
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Brain & development
- Publication Type :
- Academic Journal
- Accession number :
- 25085838
- Full Text :
- https://doi.org/10.1016/j.braindev.2014.07.003