Antiseizure medications (ASMs) are used to manage seizures; however, in most cases, control is partial or transient. Commonly used ASMs include valproic acid, clobazam, vigabatrin, felbamate, steroids, and lamotrigine for seizures, although comprehensive data are limited for the efficacy and safety of ASMs in CDD; medications for infantile spasms include ACTH, prednisolone, and vigabatrin for infantile spasms. Clinical trials support the efficacy some new ASMs. Currently, there are no specifically approved therapeutics for the symptoms of CDD, although clinical trials for the treatment of CDD symptoms are currently underway, as both phase 2 and phase 3 studies. Medications to control GI and sleep disturbances are often prescribed. Therapies, including physical, occupational, and vision therapy, are recommended. Specialized diets, such as the ketogenic diet, have been reported to help manage seizures, though the effect is often partial and transitory.
CDKL5 deficiency disorder
NGLY1 deficiency
LRBA deficiency
ATR-16 syndrome
ZC4H2 deficiency
HUPRA syndrome
PGM3 deficiency
ATR-X syndrome