Severity Assessment in CDKL5 Deficiency Disorder
نویسندگان
چکیده
منابع مشابه
Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice
CDKL5 disorder is a neurodevelopmental disorder still without a cure. Murine models of CDKL5 disorder have been recently generated raising the possibility of preclinical testing of treatments. However, unbiased, quantitative biomarkers of high translational value to monitor brain function are still missing. Moreover, the analysis of treatment is hindered by the challenge of repeatedly and non-i...
متن کاملMapping Pathological Phenotypes in a Mouse Model of CDKL5 Disorder
Mutations in cyclin-dependent kinase-like 5 (CDKL5) cause early-onset epileptic encephalopathy, a neurodevelopmental disorder with similarities to Rett Syndrome. Here we describe the physiological, molecular, and behavioral phenotyping of a Cdkl5 conditional knockout mouse model of CDKL5 disorder. Behavioral analysis of constitutive Cdkl5 knockout mice revealed key features of the human disorde...
متن کاملCDKL5 variants
Objective: To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene. Methods: We analyzed all known potentially pathogenic CDKL5 variants by combining data from large-scale population sequencing studies withCDKL5 variants from new and all av...
متن کاملRelationship between severity of depression symptoms and iron deficiency anemia in women with major depressive disorder
© 2015 The Authors; Tabriz University of Medical Sciences This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Relationship between severity of depression symptoms and iron defi...
متن کاملPrevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome.
BACKGROUND Initially described as an early onset seizure variant of Rett syndrome, the CDKL5 disorder is now considered as an independent entity. However, little is currently known about the full spectrum of comorbidities that affect these patients and available literature is limited to small case series. This study aimed to use a large international sample to examine the prevalence in this dis...
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ژورنال
عنوان ژورنال: Pediatric Neurology
سال: 2019
ISSN: 0887-8994
DOI: 10.1016/j.pediatrneurol.2019.03.017