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First case report of effective and safe application of cannabidiol to treat concurrent ALG3-CDG and Lennox-Gastaut Syndrome.
Neurol Sci
January 2025
Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-ro, Gangnam-gu, Seoul, 135-720, Korea.
This study presents the first reported case of a Korean patient with Alpha-1,3-Mannosyltransferase-Congenital Disorder of Glycosylation (ALG3-CDG), characterized by a novel maternally inherited missense mutation and a previously reported paternally inherited nonsense mutation. The patient exhibited typical ALG3-CDG manifestations, including developmental delays, epilepsy, and multisystem involvement, alongside a diagnosis of Lennox-Gastaut Syndrome (LGS). Cannabidiol therapy, combined with dietary management, led to seizure freedom for over 13 months, significant EEG improvement, and enhanced developmental outcomes.
View Article and Find Full Text PDFThe impact of radiofrequency thermocoagulation on brain connectivity in drug-resistant epilepsy: Insights from stereo-electroencephalography and cortico-cortical evoked potentials.
Epilepsia
January 2025
Academic Center for Epileptology (ACE), Kempenhaeghe/Maastricht UMC+, Maastricht & Heeze, Maastricht, The Netherlands.
Objective: To investigate whether local lesions created by stereo-electroencephalography (SEEG)-guided radiofrequency thermocoagulation (RFTC) affect distant brain connectivity and excitability in patients with focal, drug-resistant epilepsy (DRE).
Methods: Ten patients with focal DRE underwent SEEG implantation and subsequently 1 Hz bipolar repetitive electrical stimulation (RES) for 30 s before and after RFTC. Root mean square (RMS) of cortico-cortical evoked potentials (CCEPs) was calculated for 15 ms to 300 ms post-stimulation with baseline correction.
Seizure prediction and forecasting: a scoping review.
Curr Opin Neurol
January 2025
Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.
Purpose Of Review: This scoping review summarizes key developments in the field of seizure forecasting.
Recent Findings: Developments have been made along several modalities of seizure forecasting, including long term intracranial and subcutaneous encephalogram, wearable physiologic monitoring, and seizure diaries. However, clinical translation of these tools is limited by various factors.
Characterization of post-ictal clinical signs in dogs with idiopathic epilepsy: A questionnaire-based study.
J Vet Intern Med
January 2025
Department of Clinical Sciences, North Carolina State University, Raleigh, North Carolina, USA.
Background: Post-ictal (PI) clinical signs are a key defining stage of seizure manifestation in dogs. However, this phase remains poorly understood.
Objectives: To further characterize PI signs and their relation to other parts of a seizure, and understand the owner's perception of how PI signs affect the quality of life (QOL) of the dog.
A De Novo Frameshift Variant in SMC1A Causes Non-Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review.
Mol Genet Genomic Med
January 2025
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder. Although individuals with variants in the SMC1A gene are less commonly seen in CdLS, they exhibit a high incidence of epilepsy and atypical phenotypic variability.
Methods: The clinical data of a patient with non-classic CdLS and epilepsy caused by an SMC1A variant were summarized.
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