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Epileptic Disorders : International Epilepsy Journal with Videotape|July 13, 2022
Current practice in diagnostic genetic testing of the epilepsiesIlona Krey, Konrad Platzer, Alina Esterhuizen, et al.Developmental Medicine and Child Neurology|January 26, 2022
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort studyAllan Bayat, Angel Aledo-Serrano, Antonio Gil-Nagel, et al.Neurology|November 2, 2014
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsyKerstin Hallmann, Gábor Zsurka, Susanna Moskau-Hartmann, et al.Seizure|May 11, 2016
Intravenous lacosamide in clinical practice-Results from an independent registryNicolas Lang, Max Lange, Friedhelm C Schmitt, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|October 11, 2024
Early mortality in STXBP1-related disordersFrancesca Furia, Charlene Son Rigby, Ingrid E Scheffer, et al.Computer Methods and Programs in Biomedicine|March 1, 2026
Reliable detection of focal onset impaired awareness seizures in patients with epilepsy using wearable ECG: Development and validation studyMohamed Alhaskir, Ekaterina Kutafina, Florian Linke, et al.Biorxiv : the Preprint Server for Biology|March 31, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersShiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, et al.Movement Disorders : Official Journal of the Movement Disorder Society|May 10, 2024
Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 StudyValentina De Giorgis, Kailash P Bhatia, Odile Boespflug-Tanguy, et al.Epilepsia|January 6, 2011
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsyHiltrud Muhle, Ines Steinich, Sarah von Spiczak, et al.American Journal of Human Genetics|August 28, 2020
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic EncephalopathiesPeter D Galer, Shiva Ganesan, David Lewis-Smith, et al.Pageof 8