title: Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
authors: Y
authors: Y
authors: Fichou
authors: E
authors: E
authors: Bieth
authors: N
authors: N
authors: Bahi-Buisson
authors: J
authors: J
authors: Nectoux
authors: B
authors: B
authors: Girard
authors: J
authors: J
authors: Chelly
authors: Y
authors: Y
authors: Chaix
authors: T
authors: T
authors: Bienvenu
mesh_terms: D017668:Age of Onset; D019943:Amino Acid Substitution / Q000235:genetics; D001928:Brain Diseases, Metabolic / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D002540:Cerebral Cortex / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D018450:Disease Progression; D004827:Epilepsy / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D009069:Movement Disorders / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D009123:Muscle Hypotonia / Q000209:etiology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human