关于：患有严重脑病和早发性难治性癫痫男孩中的CDKL5突变 - Suppr

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Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

作者信息

Fichou Y, Bieth E, Bahi-Buisson N, Nectoux J, Girard B, Chelly J, Chaix Y, Bienvenu T

出版信息

Neurology. 2009 Jul 7;73(1):77-8; author reply 78. doi: 10.1212/01.wnl.0000349658.05677.d7.

DOI:10.1212/01.wnl.0000349658.05677.d7

PMID:19564592

Abstract

摘要

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Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

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Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

Neurology. 2009 Jul 7;73(1):77-8; author reply 78. doi: 10.1212/01.wnl.0000349658.05677.d7.

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

Neurology. 2008 Sep 23;71(13):997-9. doi: 10.1212/01.wnl.0000326592.37105.88.

Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

Neurology. 2009 Jul 7;73(1):76-7; author reply 77. doi: 10.1212/WNL.0b013e3181ab9bb6.

Epilepsy caused by CDKL5 mutations.

Eur J Paediatr Neurol. 2011 Jan;15(1):65-9. doi: 10.1016/j.ejpn.2010.04.005. Epub 2010 May 20.

Key clinical features to identify girls with CDKL5 mutations.

Brain. 2008 Oct;131(Pt 10):2647-61. doi: 10.1093/brain/awn197. Epub 2008 Sep 12.

Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.

J Child Neurol. 2007 Sep;22(9):1147-50. doi: 10.1177/0883073807306272.

Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.

Epilepsia. 2014 Nov;55(11):1748-53. doi: 10.1111/epi.12803. Epub 2014 Sep 29.

Phenotypic variations in 3 children with POLG1 mutations.

J Child Neurol. 2009 Apr;24(4):482-6. doi: 10.1177/0883073808324539. Epub 2009 Feb 2.

CDKL5 alterations lead to early epileptic encephalopathy in both genders.

Epilepsia. 2011 Oct;52(10):1835-42. doi: 10.1111/j.1528-1167.2011.03174.x. Epub 2011 Jul 19.

Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature.

Epilepsy Behav. 2008 Feb;12(2):326-31. doi: 10.1016/j.yebeh.2007.10.010. Epub 2007 Dec 11.

引用本文的文献

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.

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Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.

EMBO J. 2018 Dec 14;37(24). doi: 10.15252/embj.201899559. Epub 2018 Sep 28.

Recent advances in understanding synaptic abnormalities in Rett syndrome.

F1000Res. 2015 Dec 22;4. doi: 10.12688/f1000research.6987.1. eCollection 2015.

There is variability in the attainment of developmental milestones in the CDKL5 disorder.

J Neurodev Disord. 2015;7(1):2. doi: 10.1186/1866-1955-7-2. Epub 2015 Jan 5.

Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.

BMC Med Genet. 2014 Feb 25;15:24. doi: 10.1186/1471-2350-15-24.

Genetics, molecular biology, and phenotypes of x-linked epilepsy.

Mol Neurobiol. 2014 Jun;49(3):1166-80. doi: 10.1007/s12035-013-8589-1. Epub 2013 Nov 22.

CDKL5 and ARX mutations in males with early-onset epilepsy.

Pediatr Neurol. 2013 May;48(5):367-77. doi: 10.1016/j.pediatrneurol.2012.12.030.

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Eur J Hum Genet. 2013 Mar;21(3):266-73. doi: 10.1038/ejhg.2012.156. Epub 2012 Aug 8.

Mol Syndromol. 2012 Apr;2(3-5):137-152. doi: 10.1159/000331333. Epub 2011 Sep 13.

Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy.

J Mol Med (Berl). 2011 Feb;89(2):193-202. doi: 10.1007/s00109-010-0699-x. Epub 2010 Nov 24.