Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
Buoni
Sabrina
S
Zannolli
Raffaella
R
Hayek
Joseph
J
D017668:Age of Onset; D015415:Biomarkers / Q000032:analysis; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D004569:Electroencephalography / Q000379:methods*; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D005071:Evoked Potentials / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D009207:Myoclonus / Q000209:etiology / Q000503:physiopathology; D011237:Predictive Value of Tests; D017346:Protein Serine-Threonine Kinases / Q000235:genetics
D015415:Biomarkers; D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human