Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features

MeSH terms

• Adult
• Age of Onset
• Amino Acid Sequence
• Animals
• Base Sequence
• Cells, Cultured
• Cohort Studies
• DNA Mutational Analysis
• Exons / genetics
• Female
• Humans
• Intellectual Disability / complications
• Intellectual Disability / genetics*
• Mice
• Molecular Sequence Data
• Mutation, Missense* / physiology
• Phenotype
• Protein Serine-Threonine Kinases / genetics*
• Rett Syndrome / complications
• Rett Syndrome / genetics*
• Seizures / complications
• Seizures / epidemiology
• Seizures / genetics*
• Severity of Illness Index