Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
Fichou
Y
Y
Bieth
E
E
Bahi-Buisson
N
N
Nectoux
J
J
Girard
B
B
Chelly
J
J
Chaix
Y
Y
Bienvenu
T
T
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*
D005819:Genetic Markers; D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human