Lindsey added: "In 2018, we raised over PS6,000 for CDKL5
and the Archie Foundation and we hope to raise more for CDKL5
UK this year across multiple fundraising events.
knockout (KO) mouse models have been generated to understand how CDKL5
dysfunction leads to neurological defects in CDKL5
disorder [22, 23, 29, 30].
Finally, after about a year of this, we got a definite diagnosis of the CDKL5
disorder in April of this year.
RTT patients with atypical clinical presentation usually harbor CDKL5
(early seizure variant, ESV) or FOXG1 (con genital variant, CV) mutations, while the preserved speech variant (PSV) is usually linked to MeCP2 mutations .
is a brain MeCP2 target gene regulated by DNA methylation.
Some of the genetic disorders associated with infantile spasms are X-linked cyclin-dependent kinase-like 5 (CDKL5
or Stk9) disruption, (6) deletion of the membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2) gene, (7) disruption of the serine/threonine kinase 9 gene, (8) distal 7q duplication syndrome, (9) expansion of the first PolyA tract of aristaless-related homeobox gene (ARX), (10) filamin A (FLNA) mutations, (11) and interstitial deletion of 7q.
The tot was diagnosed with having CDKL5
and holds devastating odds of being the 17th child in the world to suffer from the rare genetic condition.
The collaboration has been expanded from three to six programs for rare genetic diseases and now includes: Pompe disease, Fabry disease, CDKL5
deficiency disorder, Niemann-Pick Type C, Mucopolysaccharidosis Type IIIB, as well as a next generation program in Mucopolysaccharidosis Type IIIA.
Studies have implicated de novo mutations of the X-linked methyl-CpG-binding protein 2 (MECP2) gene (OMIM*300005) in the majority of the RTT cases, while mutations in cyclin-dependent kinase-like 5 (CDKL5
) and forkhead box G1 (FQXG1) have been more rarely reported [3-5].
The open-label Phase 2 ARCADE trial in individuals with Dup15q syndrome or CDKL5
Deficiency Disorder continues to enroll patients with data expected in the first quarter of 2020.
Marinus Pharmaceuticals announced that ganaxolone data from its Phase 2 clinical trial in pediatric genetic epilepsies, CDKL5
Deficiency Disorder, or CDD, and PCDH19-related pediatric epilepsy, or PCDH19 epilepsy, were presented at the American Epilepsy Society, or AES.
Preserved speech, early seizure, and congenital are well-known atypical variants often linked to mutations in genes other than MECP2, that is, the cyclin-dependent kinase-like 5 (CDKL5
) in the early seizure variant and the forkhead boxG1 (FOXG1) in the congenital variant 6, 7].