Scott Demarest

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

Scott Demarest, Heather E. Olson, Angela Moss et al. · Epilepsia · 2019 · 163 citations · Full text

Medicine, Genetics, Neurology +15

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

Elia Pestana‐Knight, Sam Amin, Nadia Bahi‐Buisson et al. · UCL Discovery (University College London) · 2022 · 130 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +2

Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero et al. · Brain · 2021 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Treatment of Mitochondrial Disorders

Sreenivas Avula, Sumit Parikh, Scott Demarest et al. · Current Treatment Options in Neurology · 2014 · 107 citations · Full text

Life Sciences, Biochemistry, Pharmacology +16

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

Devon L. Johnstone, Hilal H. Al-Shekaili, Maja Tarailo‐Graovac et al. · Brain · 2018 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17