| Cyclin-dependent kinase-like 5 deficiency disorder: clinical review HE Olson, ST Demarest, EM Pestana-Knight, LC Swanson, S Iqbal, D Lal, ... Pediatric neurology 97, 18-25, 2019 | 224 | 2019 |
| CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development ST Demarest, HE Olson, A Moss, E Pestana‐Knight, X Zhang, S Parikh, ... Epilepsia 60 (8), 1733-1742, 2019 | 138 | 2019 |
| Treatment of mitochondrial disorders S Avula, S Parikh, S Demarest, J Kurz, A Gropman Current treatment options in neurology 16, 1-20, 2014 | 122 | 2014 |
| 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 EMP Knight, S Amin, N Bahi-Buisson, TA Benke, JH Cross, ST Demarest, ... The Lancet Neurology 21 (5), 417-427, 2022 | 115 | 2022 |
| CDKL5 deficiency disorder: clinical features, diagnosis, and management H Leonard, J Downs, TA Benke, L Swanson, H Olson, S Demarest The Lancet Neurology 21 (6), 563-576, 2022 | 93 | 2022 |
| Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress JK Knowles, I Helbig, CS Metcalf, LS Lubbers, LL Isom, S Demarest, ... Epilepsia 63 (10), 2461-2475, 2022 | 90 | 2022 |
| PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights DL Johnstone, HH Al-Shekaili, M Tarailo-Graovac, NI Wolf, AS Ivy, ... Brain 142 (3), 542-559, 2019 | 83 | 2019 |
| Assessing the landscape of STXBP1-related disorders in 534 individuals J Xian, S Parthasarathy, SM Ruggiero, G Balagura, E Fitch, K Helbig, ... Brain 145 (5), 1668-1683, 2022 | 81 | 2022 |
| The impact of hypsarrhythmia on infantile spasms treatment response: observational cohort study from the National Infantile Spasms Consortium ST Demarest, RA Shellhaas, WD Gaillard, C Keator, KC Nickels, ... Epilepsia 58 (12), 2098-2103, 2017 | 77 | 2017 |
| Current knowledge of SLC6A1-related neurodevelopmental disorders K Goodspeed, E Pérez-Palma, S Iqbal, D Cooper, A Scimemi, ... Brain communications 2 (2), fcaa170, 2020 | 70 | 2020 |
| Severity assessment in CDKL5 deficiency disorder S Demarest, EM Pestana-Knight, HE Olson, J Downs, ED Marsh, ... Pediatric neurology 97, 38-42, 2019 | 68 | 2019 |
| From molecules to medicines: the dawn of targeted therapies for genetic epilepsies ST Demarest, A Brooks-Kayal Nature reviews Neurology 14 (12), 735-745, 2018 | 57 | 2018 |
| The epilepsy genetics initiative: systematic reanalysis of diagnostic exomes increases yield Epilepsy Genetics Initiative, SF Berkovic, DB Goldstein, EL Heinzen, ... Epilepsia 60 (5), 797-806, 2019 | 54 | 2019 |
| Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder Z Lim, K Wong, J Downs, K Bebbington, S Demarest, H Leonard Epilepsy research 146, 36-40, 2018 | 51 | 2018 |
| Early-onset Aicardi-Goutieres syndrome: magnetic resonance imaging (MRI) pattern recognition A Vanderver, M Prust, N Kadom, S Demarest, YJ Crow, G Helman, ... Journal of child neurology 30 (10), 1343-1348, 2015 | 51 | 2015 |
| Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder HE Olson, CI Daniels, I Haviland, LC Swanson, CA Greene, AMM Denny, ... Journal of neurodevelopmental disorders 13, 1-11, 2021 | 40 | 2021 |
| Factors in the disease severity of ATP1A3 mutations: impairment, misfolding, and allele competition E Arystarkhova, IU Haq, T Luebbert, F Mochel, R Saunders-Pullman, ... Neurobiology of disease 132, 104577, 2019 | 39 | 2019 |
| Phenotypic Analysis of Epilepsy in the Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes–Associated Mitochondrial DNA A3243G Mutation ST Demarest, MT Whitehead, S Turnacioglu, PL Pearl, AL Gropman Journal of Child Neurology 29 (9), 1249-1256, 2014 | 39 | 2014 |
| Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder H Leonard, M Junaid, K Wong, S Demarest, J Downs Epilepsy research 169, 106521, 2021 | 38 | 2021 |
| Exploring genotype‐phenotype relationships in the CDKL5 deficiency disorder using an international dataset CI MacKay, K Wong, ST Demarest, TA Benke, J Downs, H Leonard Clinical Genetics 99 (1), 157-165, 2021 | 34 | 2021 |
