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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 43"
Page 1
Genetic testing for the epilepsies: A systematic review.
Sheidley BR, Malinowski J, Bergner AL, Bier L, Gloss DS, Mu W, Mulhern MM, Partack EJ, Poduri A. Sheidley BR, et al. Epilepsia. 2022 Feb;63(2):375-387. doi: 10.1111/epi.17141. Epub 2021 Dec 10. Epilepsia. 2022. PMID: 34893972
OBJECTIVE: Numerous genetic testing options for individuals with epilepsy have emerged over the past decade without clear guidelines regarding optimal testing strategies. ...The only phenotypic factors that were significantly associated with increased yield were (1) the pr …
OBJECTIVE: Numerous genetic testing options for individuals with epilepsy have emerged over the past decade without clear guidelines …
Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.
Cooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM. Cooley Coleman JA, et al. Am J Med Genet A. 2021 Dec;185(12):3884-3894. doi: 10.1002/ajmg.a.62412. Epub 2021 Jun 29. Am J Med Genet A. 2021. PMID: 34184825 Review.
MEF2C-related disorders (aka MEF2C-haploinsufficiency) are caused by variations in or involving the MEF2C gene and are characterized by intellectual disability, developmental delay, lack of speech, limited walking, and seizures. Despite these findings, the disorder is not …
MEF2C-related disorders (aka MEF2C-haploinsufficiency) are caused by variations in or involving the MEF2C gene and are characterized by inte …
Efficacy and Safety of Adjunctive Cannabidiol in Patients with Lennox-Gastaut Syndrome: A Systematic Review and Meta-Analysis.
Lattanzi S, Brigo F, Cagnetti C, Trinka E, Silvestrini M. Lattanzi S, et al. CNS Drugs. 2018 Oct;32(10):905-916. doi: 10.1007/s40263-018-0558-9. CNS Drugs. 2018. PMID: 30132269
BACKGROUND: Lennox-Gastaut syndrome (LGS) is a severe developmental epileptic encephalopathy, and available interventions fail to control seizures in most patients. ...The rate of non-drop seizure frequency was reduced by 50% or more in 49.4% of patients in t …
BACKGROUND: Lennox-Gastaut syndrome (LGS) is a severe developmental epileptic encephalopathy, and available interventio …
Diffusion tensor tractography imaging in pediatric epilepsy - A systematic review.
Szmuda M, Szmuda T, Springer J, Rogowska M, Sabisz A, Dubaniewicz M, Mazurkiewicz-Bełdzińska M. Szmuda M, et al. Neurol Neurochir Pol. 2016;50(1):1-6. doi: 10.1016/j.pjnns.2015.10.003. Epub 2015 Oct 29. Neurol Neurochir Pol. 2016. PMID: 26851683 Review.
PURPOSE: Recent years brought several experimental and clinical reports applying diffusion tensor tractography imaging (DTI) of the brain in epilepsy. This study was aimed to evaluate current evidence for adding the DTI sequence to the standard diagnostic magnetic r …
PURPOSE: Recent years brought several experimental and clinical reports applying diffusion tensor tractography imaging (DTI) of the brain …
Antenatal diagnosis of fetal intraventricular hemorrhage: systematic review and meta-analysis.
Dunbar MJ, Woodward K, Leijser LM, Kirton A. Dunbar MJ, et al. Dev Med Child Neurol. 2021 Feb;63(2):144-155. doi: 10.1111/dmcn.14713. Epub 2020 Oct 22. Dev Med Child Neurol. 2021. PMID: 33094492 Free article.
Presence of venous infarction was associated with mortality (odds ratio [OR] 4.3, 95% confidence interval [CI] 1.4-13.25), motor impairment (OR 103.2, 95% CI 8.6-1238), epilepsy (OR 6.46, 95% CI 2.64-16.06), and developmental delay (OR 8.55, 95% CI 2.12-48.79). ...
Presence of venous infarction was associated with mortality (odds ratio [OR] 4.3, 95% confidence interval [CI] 1.4-13.25), motor impairment …
A Systematic Review of Seizure-Freedom Rates in Patients With Benign Epilepsy of Childhood With Centrotemporal Spikes Receiving Antiepileptic Drugs.
Gerstl L, Willimsky E, Rémi C, Noachtar S, Borggräfe I, Tacke M. Gerstl L, et al. Clin Neuropharmacol. 2021 Mar-Apr 01;44(2):39-46. doi: 10.1097/WNF.0000000000000435. Clin Neuropharmacol. 2021. PMID: 33605607
OBJECTIVES: The objective of this study was to evaluate seizure remission rates in patients with benign epilepsy of childhood with centrotemporal spikes (BECTS) receiving antiepileptic drugs. ...The randomized controlled trials included a total of 308 patients and covered …
OBJECTIVES: The objective of this study was to evaluate seizure remission rates in patients with benign epilepsy of childhood with ce …
CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.
Della Vecchia S, Lopergolo D, Trovato R, Pasquariello R, Ferrari AR, Bartolini E. Della Vecchia S, et al. Seizure. 2023 Jan;104:32-37. doi: 10.1016/j.seizure.2022.11.014. Epub 2022 Nov 29. Seizure. 2023. PMID: 36476360 Free article.
Although seizures have been formerly reported, their clinical semiology, EEG features and long-term outcome are largely unknown. PURPOSE: This study aims to expand knowledge on epilepsy associated with Cabezas syndrome and to understand whether different types of variants …
Although seizures have been formerly reported, their clinical semiology, EEG features and long-term outcome are largely unknown. PURPOSE: Th …