Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?

Abstract excerpt

Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene cause the neurodevelopmental disorder, the CDKL5 deficiency disorder. Reports of individuals with pathogenic variants in CDKL5 without seizures are exceedingly rare, and in-depth analyses of their variants have been lacking. Whole-genome sequencing was performed on a 29-year-old female with mild intellectual disability who, in the absence of...

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• Epileptic Syndromes
• Intellectual Disability
• Mutation, Missense
• Protein Serine-Threonine Kinases
• Rett Syndrome