A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome-Reference-Cited by-同舟云学术

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A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome

Published:2016-08 Issue: Volume:459 Page:132-136
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Christianto Antonius,Katayama Syouichi,Kameshita Isamu,Inazu Tetsuya

Funder

MEXT

Ministry of Education, Culture, Sports and Technology of Japan

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference32 articles.

1. Guidelines for reporting clinical features in cases with MECP2 mutations;Kerr;Brain Dev.,2001

2. Clinical manifestations and stages of Rett syndrome;Hagberg;Ment. Retard. Dev. Disabil. Res. Rev.,2002

3. Rett syndrome in Australia: a review of the epidemiology;Laurvick;J. Pediatr.,2006

4. Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations;Moseley;Pediatr. Neurol.,2012

5. Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations;Raymond;Gene,2013

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Comprehensive In Silico Functional Prediction Analysis of CDKL5 by Single Amino Acid Substitution in the Catalytic Domain;International Journal of Molecular Sciences;2022-10-14

2. Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review;Frontiers in Neurology;2022-03-01

3. p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis;Clinica Chimica Acta;2021-12

4. CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype;European Journal of Medical Genetics;2021-01

5. Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome: Correlation with phenotype and genes expression;Clinica Chimica Acta;2020-09

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