Jenny Downs Selected Research

CDKL5 deficiency disorder

10/2022	Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder.
1/2021	Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder.
1/2021	Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
1/2020	Cyclin-dependent-like kinase 5 is required for pain signaling in human sensory neurons and mouse models.
1/2020	Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?
1/2019	Severity Assessment in CDKL5 Deficiency Disorder.
1/2019	A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder.
10/2018	Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder.
1/2017	Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients.
11/2016	Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.

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Jenny Downs Research Topics

Disease

15	Rett Syndrome (Rett's Disorder) 01/2022 - 06/2009
10	CDKL5 deficiency disorder 10/2022 - 11/2016
6	Intellectual Disability (Idiocy) 10/2020 - 06/2008
4	Seizures (Absence Seizure) 01/2022 - 08/2009
4	Scoliosis 01/2016 - 06/2009
3	Pain (Aches) 01/2020 - 08/2009
3	Respiratory Tract Infections (Respiratory Tract Infection) 01/2020 - 01/2016
3	Epilepsy (Aura) 01/2020 - 01/2017
3	Drug Resistant Epilepsy 01/2019 - 01/2017
2	Neurodevelopmental Disorders 01/2022 - 01/2020
2	Brain Diseases (Brain Disorder) 01/2020 - 03/2019
2	Nervous System Diseases (Neurological Disorders) 11/2018 - 01/2016
2	Down Syndrome (Down's Syndrome) 06/2018 - 09/2014
2	Weight Gain 08/2016 - 12/2014
1	Disorders of Excessive Somnolence (Hypersomnia) 10/2022
1	Sleep Initiation and Maintenance Disorders (Insomnia) 10/2022
1	Prader-Willi Syndrome (Syndrome, Prader-Willi) 02/2022
1	Sleep Apnea Syndromes (Sleep Apnea) 02/2022
1	Lubs X-linked mental retardation syndrome 01/2022
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2021
1	Muscle Hypotonia (Hypotonia) 01/2020
1	Lennox Gastaut Syndrome 01/2019
1	Heart Diseases (Heart Disease) 11/2018
1	Rare Diseases (Rare Disease) 11/2018
1	Hyperlipoproteinemia Type II (Familial Hypercholesterolemia) 11/2018
1	Infantile Spasms (West Syndrome) 11/2016
1	Osteoporosis 01/2016
1	Infections 01/2016
1	Gagging 12/2014
1	Airway Obstruction (Choking) 12/2014
1	Gallbladder Diseases (Gall Bladder Disease) 08/2014
1	Abdominal Pain (Pain, Abdominal) 08/2014
1	Gastroesophageal Reflux (GERD) 08/2014
1	Cholelithiasis 08/2014
1	Motor Skills Disorders (Motor Skills Disorder) 01/2014
1	Wounds and Injuries (Trauma) 05/2010
1	Burns 05/2010

Drug/Important Bio-Agent (IBA)

6	Cyclin-Dependent Kinases (cdk Proteins)IBA 10/2022 - 01/2019
4	Methyl-CpG-Binding Protein 2IBA 01/2022 - 02/2015
2	CyclinsIBA 01/2020 - 11/2016
2	Biological ProductsIBA 11/2018 - 01/2017
2	Biomarkers (Surrogate Marker)IBA 11/2018 - 06/2018
2	Vitamin D FDA LinkGeneric 01/2016 - 06/2008
1	Growth Hormone (Somatotropin)IBA 02/2022
1	Phosphotransferases (Kinase)IBA 01/2020
1	CannabinoidsIBA 01/2019
1	CannabidiolIBA 01/2019
1	A-factor (Streptomyces)IBA 01/2019
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 11/2018
1	SolutionsIBA 11/2018
1	LDL Lipoproteins (beta Lipoproteins)IBA 11/2018
1	LDL Receptors (LDL Receptor)IBA 11/2018
1	Brain-Derived Neurotrophic Factor (BDNF)IBA 10/2018
1	Anticonvulsants (Antiepileptic Drugs)IBA 01/2017
1	Adrenal Cortex Hormones (Corticosteroids)IBA 11/2016
1	insulin receptor-related receptor (IRR)IBA 11/2016
1	Diphosphonates (Bisphosphonates)IBA 01/2016
1	CalciumIBA 01/2016
1	dicarboxydine (DCD)IBA 01/2014
1	boldenone undecylenate (Equipoise)IBA 05/2013

Therapy/Procedure

7	Gastrostomy 10/2020 - 12/2014
4	Therapeutics 02/2022 - 08/2009
2	Spinal Fusion (Spondylosyndesis) 01/2016 - 01/2016
2	Activities of Daily Living (ADL) 09/2014 - 06/2009
1	Polypharmacy 01/2022
1	Drug Therapy (Chemotherapy) 11/2018
1	Vagus Nerve Stimulation 10/2018
1	Enteral Nutrition (Feeding, Tube) 01/2018
1	Ketogenic Diet 01/2017
1	Cholecystectomy 08/2014
1	Ligation 09/2012
1	Injections 05/2010
1	Early Ambulation 08/2009
1	Anesthesia 08/2009
1	Conservative Treatment 08/2009