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X reactivation: in female patients heterozygous for the CDKL5 mutation, each cell expressing the mutant protein also carries a fully functional, but silent, CDKL5 gene copy on the inactivated X chromosome. One strategy for treatment of girls with CDD is thus to re-activate the silent, inactivated CDKL5 gene on the inactivated X chromosome.
382253 Ensembl ENSG00000008086 ENSMUSG00000031292 UniProt O76039 Q3UTQ8 RefSeq (mRNA) NM_001037343 NM_003159 NM_001323289 NM_001024624 RefSeq (protein) NP_001032420 NP_001310218 NP_003150 NP_001019795 Location (UCSC) Chr X: 18.43 – 18.65 Mb Chr X: 159.55 – 159.78 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse CDKL5 is a gene that provides instructions for making a protein called ...
12568 Ensembl ENSG00000164885 ENSMUSG00000028969 UniProt Q00535 P49615 RefSeq (mRNA) NM_001164410 NM_004935 NM_007668 RefSeq (protein) NP_001157882 NP_004926 NP_031694 Location (UCSC) Chr 7: 151.05 – 151.06 Mb Chr 5: 24.62 – 24.63 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Cyclin-dependent kinase 5 is a protein, and more specifically an enzyme, that is encoded by the Cdk5 ...
Casey Means, MD, author of “Good Energy,” discovered that the pathway to optimal health starts with your fork. Read an excerpt of her new book and eat better.
"Finding biomarkers that signal that the neurodegenerative process of Alzheimer's disease has begun opens an early window for treatment and prevention of further deterioration." How does the ...
Soticlestat (TAK-935, OV-935) is an experimental anticonvulsant and cholesterol 24-hydroxylase inhibitor being investigated as a treatment for Dravet syndrome, Lennox–Gastaut syndrome, tuberous sclerosis complex, dup15q syndrome, and CDKL5 deficiency disorder.
Aside from pain treatment, doctors may prescribe aspirin to patients who are at risk of heart attack or stroke, according to Harvard Health. These two serious health conditions occur when plaque ...
Ganaxolone, sold under the brand name Ztalmy, is a medication used to treat seizures in people with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder. [1] [3] Ganaxolone is a neuroactive steroid gamma-aminobutyric acid (GABA) A receptor positive modulator.