The disorder involves losing the function of a gene producing the CDKL5 enzyme, which phosphorylates proteins, meaning it adds an extra phosphate molecule to alter their function.

Terzic, B., et al. (2021) Temporal manipulation of Cdkl5 reveals essential postdevelopmental functions and reversible CDKL5 deficiency disorder–related deficits.

The disorder involves losing the function of a gene producing the CDKL5 enzyme, which phosphorylates proteins, meaning it adds an extra phosphate molecule to alter their function.

CDKL5 deficiency disorder affects around one in 40,000 children -- or people. And it is one of the top 10 monogenic epilepsies, as we know them today.

CDKL5 Deficiency Disorder (CDD) is a devastating neurodevelopmental disorder caused by mutations in the CDKL5 gene. The Loulou Foundation, a private non-profit foundation dedicated to the development ...

CDKL5 Deficiency Disorder Voice of the Patient Report Submitted to FDA June 17, 2020 11:12 AM Eastern Daylight Time ...

UCB, a global biopharmaceutical company, today announced that the Phase 3 study investigating the safety and efficacy of adjunctive fenfluramine in CDKL5 deficiency disorder (CDD) met its primary ...

Topline data were announced from a phase 3 trial that evaluated adjunctive fenfluramine in patients with cyclin dependent kinase-like 5 (CDKL5) deficiency disorder (CDD), a rare developmental ...

BALLSTON SPA, N.Y. (NEWS10) — A family in Ballston Spa is asking for the community’s help this June for CDKL5 Deficiency Disorder Awareness Month — a rare genetic disorder that only about ...

Meeting Coverage > AAN CDKL5 Deficiency Disorder Drug Data Support Modest Benefit — Success in rare epileptic disorder may presage broader approvals by John Gever, Contributing Writer, MedPage ...

--Ovid Therapeutics Inc., a biopharmaceutical company committed to developing medicines that transform the lives of people with rare neurological diseases, today announced initial data from its ...

A family in Malta is asking for the community’s help this June for CDKL5 Deficiency Disorder Awareness Month — a rare genetic disorder that only about one in 60,000 people are born with… ...