Scott Demarest Selected Research

Mitochondrial encephalopathy

1/2019

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

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Scott Demarest Research Topics

Disease

8	CDKL5 deficiency disorder 01/2023 - 10/2018
7	Epilepsy (Aura) 10/2022 - 01/2019
5	Seizures (Absence Seizure) 11/2023 - 02/2021
3	Infantile Spasms (West Syndrome) 01/2023 - 01/2022
2	Brain Diseases (Brain Disorder) 01/2023 - 01/2022
2	Neurodevelopmental Disorders 01/2023 - 10/2021
2	Drug Resistant Epilepsy 10/2021 - 10/2018
1	Spasm (Spasms) 01/2023
1	Sleep Initiation and Maintenance Disorders (Insomnia) 10/2022
1	Disorders of Excessive Somnolence (Hypersomnia) 10/2022
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2022
1	Congenital Disorders of Glycosylation 01/2022
1	Vision Disorders (Hemeralopia) 10/2021
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 02/2021
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2021
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2020
1	Nervous System Diseases (Neurological Disorders) 12/2019
1	Mitochondrial encephalopathy 01/2019
1	Movement Disorders (Movement Disorder) 01/2019

Drug/Important Bio-Agent (IBA)

6	Cyclin-Dependent Kinases (cdk Proteins)IBA 11/2023 - 01/2019
3	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2023 - 01/2022
2	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2022
1	ganaxoloneIBA 11/2023
1	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2023
1	soticlestatIBA 01/2023
1	Phosphotransferases (Kinase)IBA 01/2023
1	Vigabatrin FDA Link 01/2023
1	Glycoproteins (Glycoprotein)IBA 01/2022
1	Phenobarbital (Luminal)FDA Link 01/2022
1	DolicholsIBA 01/2022
1	EnzymesIBA 01/2022
1	Biomarkers (Surrogate Marker)IBA 10/2021
1	Tripeptidyl-Peptidase 1IBA 01/2020
1	cerliponase alfaIBA 01/2020
1	Adenosine Triphosphatases (ATPase)IBA 12/2019
1	Protein Isoforms (Isoforms)IBA 12/2019
1	VitaminsIBA 01/2019
1	Leucovorin (Folinic Acid)FDA Link 01/2019

Therapy/Procedure

8	Therapeutics 01/2023 - 01/2021
2	Ketogenic Diet 01/2023 - 01/2022
1	Treatment Delay 01/2023
1	Precision Medicine 10/2022
1	Polypharmacy 01/2022
1	Duration of Therapy 01/2021
1	Vagus Nerve Stimulation 10/2018