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Epilepsy & Behavior : E&B|April 19, 2020
A study of the significance of photoparoxysmal responses and spontaneous epileptiform discharges in the EEG in childhood epilepsyOdile Alexandra van Win, Jeffrey G Barnes, Cyrille F Ferrier, et al.
Molecular Diagnosis & Therapy|November 9, 2010
Predictive value of the lymphocyte toxicity assay in the diagnosis of drug hypersensitivity syndromeAbdelbaset A Elzagallaai, Zahra Jahedmotlagh, Blanca R Del Pozzo-Magaña, et al.
American Journal of Medical Genetics|February 22, 2002
Smith-Lemli-Opitz syndrome: new mutation with a mild phenotypeChitra Prasad, Sandra Marles, Asuri N Prasad, et al.
Epilepsia|July 26, 2014
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxiaSali M K Farhan, Lisa M Murphy, John F Robinson, et al.
Frontiers in Neurology|November 2, 2023
Biallelic pathogenic variants in <i>POLR3D</i> alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case reportJulia Macintosh, Stefanie Perrier, Maxime Pinard, et al.
Trials|November 12, 2020
A live-online mindfulness-based intervention for children living with epilepsy and their families: protocol for a randomized controlled trial of Making Mindfulness Matter©Klajdi Puka, Karen Bax, Andrea Andrade, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|October 8, 2019
Implementation of Epilepsy Multigene Panel Testing in Ontario, CanadaDavid A Dyment, Asuri N Prasad, Kym M Boycott, et al.
American Journal of Medical Genetics. Part A|May 20, 2004
Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndromeAlain Verloes, Pierre Bitoun, Anne Heuskin, et al.
Neurology|August 25, 2022
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent EpilepsyCurtis R Coughlin, Laura A Tseng, Levinus A Bok, et al.
Human Molecular Genetics|November 9, 2023
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variantsJames P Allen, Kathryn B Garber, Riley Perszyk, et al.
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