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Distribution of hand function by age in individuals with Rett syndrome.
Ann Child Neurol Soc
September 2023
University of Alabama at Birmingham, Birmingham, AL.
Article Synopsis
- - The study aimed to track changes in hand function skills over time in girls and young women with classic Rett Syndrome (RTT) and examine how these changes relate to genetic variants.
- - Researchers analyzed data from 946 participants between ages 2 and 18, revealing that hand function generally declines over time, with sharper declines noted in individuals with milder genetic variants.
- - The findings suggest that understanding these variations in hand use is crucial for designing effective clinical trials for RTT treatments, highlighting the need to consider specific genetic factors affecting hand function when planning interventions.
CDKL5 Deficiency Disorder: Some Lessons Learned 20 Years After the First Description.
Am J Intellect Dev Disabil
March 2024
Heather E. Olson, Boston Children's Hospital.
Loss of function variants in the Cyclin-dependent kinase-like 5 gene (CDKL5) causes CDKL5 deficiency disorder (CDD). Most cases of CDD are due to a de novo missense or truncating variants. The CDKL5 gene was discovered in 1998 as part of the genomic mapping of the chromosome Xp22 region that led to the discovery of the serine-threonine kinases STK9.
View Article and Find Full Text PDFClinical and functional study of two de novo variations of CDKL5 gene.
Neurogenetics
October 2023
Department of Neurology, Hebei Children's Hospital, Hebei Children's Hospital Affiliated to Hebei Medical University, 133 Jianhua Nan Street, Shijiazhuang, 050031, Hebei, China.
The cyclin-dependent kinase like 5 (CDKL5) gene variation is X-linked dominant and is associated with type 2 developmental and epileptic encephalopathy (DEE). Although numerous cases of CDKL5 have been reported, there is limited discussion regarding functional verification. We described two children with DEE caused by de novo variations of CDKL5 gene, analyzed their clinical manifestations, and performed genetic testing on their gene variation sites.
View Article and Find Full Text PDFResearch progress on the pathogenesis of CDKL5 pathogenic variants and related encephalopathy.
Eur J Pediatr
July 2023
Department of Neurology, Lanzhou University Second Hospital, Lanzhou, 730000, China.
Cyclin-dependent kinase-like 5 (CDKL5) is a gene encoding a serine/threonine kinase that possesses an N-terminal catalytic domain and a large C-terminal domain and is located on the short arm of the X-chromosome at position 22 (Xp22). CDKL5 regulates neuronal migration, axonal growth, dendritic morphogenesis, and synaptic development and affects synaptic function. Pathogenic variants include deletions, truncations, splice variants, and missense variants.
View Article and Find Full Text PDFFactors influencing the attainment of major motor milestones in CDKL5 deficiency disorder.
Eur J Hum Genet
February 2023
Telethon Kids Institute, The University of Western Australia, Perth, WA, Australia.
This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database. A first model included factors available at birth (e.
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