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European Journal of Medical Genetics|May 21, 2021
Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?Cathrine E Gjerulfsen, Rikke S Møller, Christina D Fenger, et al.
Methods in Molecular Biology (Clifton, N.J.)|May 10, 2024
Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and EpilepsyCathrine E Gjerulfsen, Ilona Krey, Chiara Klöckner, et al.
Epilepsia Open|August 14, 2024
Fenfluramine treatment in pediatric patients with Dravet syndrome reduces seizure burden and overall healthcare costs: A retrospective and observational real-world studyCathrine E Gjerulfsen, Marina Nikanorova, Kern Olofsson, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 15, 2025
Cenobamate as add-on treatment in ultra-refractory focal epilepsy: Real-world results from The Danish Epilepsy Centre, Dianalund, DenmarkCathrine E Gjerulfsen, Stefan Juhl, Katarzyna M Mieszczanek, et al.
Annals of Clinical and Translational Neurology|July 12, 2023
Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variantCathrine E Gjerulfsen, Tomasz S Mieszczanek, Katrine M Johannesen, et al.
Epilepsia|January 15, 2025
Cenobamate as add-on treatment for SCN8A developmental and epileptic encephalopathyCathrine E Gjerulfsen, Madeleine J Oudin, Francesca Furia, et al.
Epilepsia|June 2, 2026
Add-on treatment with vinpocetine reduces seizure frequency and improves comorbidities in patients with loss-of-function γ-aminobutyric acid type A receptor variantsCathrine E Gjerulfsen, Vivian W Y Liao, Tomasz S Mieszczanek, et al.
Neurology. Genetics|November 18, 2021
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic SpectrumKatrine M Johannesen, Elena Gardella, Cathrine E Gjerulfsen, et al.
Brain : a Journal of Neurology|August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
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