Variant: rs1555951954

present in Gene: CDKL5 present in Chromosome: X Position on Chromosome: 18604030 Alleles of this Variant: AAACCTTGCTGGAG/-

rs1555951954 in CDKL5 gene and Muscle hypotonia PMID 23583054 2013 CDKL5 and ARX mutations in males with early-onset epilepsy.

PMID 24564546 2014 Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.

PMID 22872100 2013 The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

PMID 25266480 2014 Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.

PMID 27528505 2016 Functional abilities in children and adults with the CDKL5 disorder.

PMID 26708753 2016 Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.

PMID 22670135 2012 CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.

PMID 24916645 2015 GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.

PMID 22678952 2012 Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.

PMID 15492925 2004 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

PMID 19793311 2009 Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.

PMID 19471977 2009 Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.

PMID 23151060 2013 Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.

PMID 19241098 2009 Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.

PMID 22779007 2012 What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.

PMID 21775177 2011 Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.

PMID 18266744 2008 The three stages of epilepsy in patients with CDKL5 mutations.