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CDKL5 wt Allele

Known as: Cyclin-Dependent Kinase-Like 5 wt Allele, ISSX, STK9 
Human CDKL5 wild-type allele is located in the vicinity of Xp22 and is approximately 228 kb in length. This allele, which encodes cyclin-dependent… 
National Institutes of Health

Related topics

Related topics

5 relations
CDKL5 geneHomo sapiensPhosphorylationSerine/Threonine Phosphorylation

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome
ABSTRACT X-linked infantile spasms syndrome (ISSX) is a clinically devastating developmental epileptic encephalopathy with life… 
2015
2015
Expanding Pedestrian Injury Risk to the Body Region Level: How to Model Passive Safety Systems in Pedestrian Injury Risk Functions
Objective: Assessment of the effectiveness of advanced driver assistance systems (ADAS) plays a crucial role in accident research… 
2013
2013
Arx Polyalanine Expansion in Mice Leads to Reduced Pancreatic α-Cell Specification and Increased α-Cell Death
ARX/Arx is a homeodomain-containing transcription factor necessary for the specification and early maintenance of pancreatic… 
Review
2012
Review
2012
Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms
2008
2008
Combination of infantile spasms, non-epileptic seizures and complex movement disorder: A new case of ARX-related epilepsy
2008
2008
Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome.
We report on a female patient with severe infantile spasms, profound global developmental arrest, hypsarrhythmia and severe… 
Review
2008
Review
2008
[ARX--one gene--many phenotypes].
Mental retardation is a serious social problem. It affects 2-3% of the population. It is estimated that mutations in the ARX gene… 
Highly Cited
2005
Highly Cited
2005
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.
X-linked cyclin-dependent kinase-like 5 (CDKL5 or STK9) has recently been implicated in atypical Rett and X-linked West syndromes… 
Highly Cited
2002
Highly Cited
2002
X-linked myoclonic epilepsy with spasticity and intellectual disability: Mutation in the homeobox gene ARX
ObjectiveTo describe a new syndrome of X-linked myoclonic epilepsy with generalized spasticity and intellectual disability… 
Highly Cited
1998
Highly Cited
1998
Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region.
Eukaryotic protein kinases are part of a large and expanding family of proteins. Through our transcriptional mapping effort in… 
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