CDKL5 Deficiency DisorderSymptoms, Doctors, Treatments, Advances & More
Learn About CDKL5 Deficiency Disorder
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However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.
Cleveland Clinic Main Campus
Elia Knight is a Pediatrics provider practicing medicine in Cleveland, Ohio. Dr. Knight is rated as an Elite provider by MediFind in the treatment of CDKL5 Deficiency Disorder. She is also highly rated in 107 other conditions, according to our data. Her clinical expertise encompasses CDKL5 Deficiency Disorder, West Syndrome, Seizures, and Epilepsy. Dr. Knight is board certified in American Board Of Psychiatry And Neurology, 2013.
Department Of Neurology
Heather Olson is a Pediatric Neurologist practicing medicine in Boston, Massachusetts. Dr. Olson is rated as an Elite provider by MediFind in the treatment of CDKL5 Deficiency Disorder. She is also highly rated in 50 other conditions, according to our data. Her clinical expertise encompasses CDKL5 Deficiency Disorder, Spasmus Nutans, West Syndrome, and Epilepsy in Children.
Children's Hospital Colorado
Scott Demarest is a Neurologist practicing medicine in Aurora, Colorado. Dr. Demarest is rated as an Elite provider by MediFind in the treatment of CDKL5 Deficiency Disorder. He is also highly rated in 17 other conditions, according to our data. His clinical expertise encompasses CDKL5 Deficiency Disorder, West Syndrome, Spasmus Nutans, and Epilepsy.
Summary: Owing to the recent classification of CDKL5 Deficiency Disorder (CDD) as a unique disorder, there is a limited understanding of overall disease natural history and meaningful outcome measures. An international patient registry aimed at collecting both patient/caregiver and clinician-entered demographic, patient-reported outcome (PRO) and treatment data would benefit both the scientific and patient...
Summary: Pathogenic variants in the Cyclin-dependent kinase like 5 (CDKL5) gene cause CDKL5 deficiency disorder (CDD, MIM 300672, 105830), a severe developmental and epileptic encephalopathy associated with cognitive and motor impairments and cortical visual impairment. While capability for disease modifying therapies is accelerating, there is a critical barrier for clinical trial readiness that may result...