Disease

CDKL5 Deficiency Disorder

About the Disease
Cdkl5 Deficiency Disorder, also known as cdkl5 disorder, is related to craniodiaphyseal dysplasia and childhood disintegrative disease. An important gene associated with Cdkl5 Deficiency Disorder is CDKL5 (Cyclin Dependent Kinase Like 5). The drugs Eltanolone and Stiripentol have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and cortex, and related phenotypes are generalized tonic seizure and thick vermilion border

Common Targets
CDKL5 | GABRG2 | PDE10A | CLK4 | DYRK1A | GABA(A) receptor | MIR183 | GABRA1 | CLK1 | 5-Hydroxytryptamine Receptor (nonspecified subtype) | CYP46A1

疾病靶点研报
CDKL5 Deficiency Disorder

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