Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.
Masliah-Plachon
Julien
J
Laboratoire de Biochimie et Biologie Moléculaire, AP-HP, Hôpital Cochin, Paris, France.
Auvin
Stéphane
S
Nectoux
Juliette
J
Fichou
Yann
Y
Chelly
Jamel
J
Bienvenu
Thierry
T
D001927:Brain Diseases / Q000150:complications*; D004569:Electroencephalography; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D009154:Mutation / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013036:Spasms, Infantile / Q000235:genetics*
D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human