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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 32"
Page 1
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE. Vlaskamp DRM, et al. Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12. Neurology. 2019. PMID: 30541864 Free PMC article.
We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1. We analyzed patients' phenotypes using a standardized epilepsy questionnaire, medical records, EEG, MRI, and seizure videos. ...Developmenta …
We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1. We analyze …
Epilepsy in Angelman syndrome: A scoping review.
Samanta D. Samanta D. Brain Dev. 2021 Jan;43(1):32-44. doi: 10.1016/j.braindev.2020.08.014. Epub 2020 Sep 4. Brain Dev. 2021. PMID: 32893075 Free PMC article. Review.
Intractable epileptic seizures since early childhood with characteristic EEG abnormalities are present in 80-90% patients with AS. Underlying pathophysiology may involve neocortical and thalamocortical hyperexcitability secondary to severe reduction of GABAergic input, as …
Intractable epileptic seizures since early childhood with characteristic EEG abnormalities are present in 80-90% patients with AS. Un …
Cannabidiol in patients with seizures associated with Lennox-Gastaut syndrome (GWPCARE4): a randomised, double-blind, placebo-controlled phase 3 trial.
Thiele EA, Marsh ED, French JA, Mazurkiewicz-Beldzinska M, Benbadis SR, Joshi C, Lyons PD, Taylor A, Roberts C, Sommerville K; GWPCARE4 Study Group. Thiele EA, et al. Lancet. 2018 Mar 17;391(10125):1085-1096. doi: 10.1016/S0140-6736(18)30136-3. Epub 2018 Jan 26. Lancet. 2018. PMID: 29395273 Clinical Trial.
BACKGROUND: Patients with Lennox-Gastaut syndrome, a rare, severe form of epileptic encephalopathy, are frequently treatment resistant to available medications. ...We therefore assessed the efficacy and safety of cannabidiol as an add-on anticonvulsant therapy in th …
BACKGROUND: Patients with Lennox-Gastaut syndrome, a rare, severe form of epileptic encephalopathy, are frequently treatment r …
Safety of Early Discontinuation of Antiseizure Medication After Acute Symptomatic Neonatal Seizures.
Glass HC, Soul JS, Chang T, Wusthoff CJ, Chu CJ, Massey SL, Abend NS, Lemmon M, Thomas C, Numis AL, Guillet R, Sturza J, McNamara NA, Rogers EE, Franck LS, McCulloch CE, Shellhaas RA. Glass HC, et al. JAMA Neurol. 2021 Jul 1;78(7):817-825. doi: 10.1001/jamaneurol.2021.1437. JAMA Neurol. 2021. PMID: 34028496 Free PMC article.
IMPORTANCE: Antiseizure medication (ASM) treatment duration for acute symptomatic neonatal seizures is variable. A randomized clinical trial of phenobarbital compared with placebo after resolution of acute symptomatic seizures closed early owing to low enroll …
IMPORTANCE: Antiseizure medication (ASM) treatment duration for acute symptomatic neonatal seizures is variable. A randomized clin …
Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism.
Christensen J, Grønborg TK, Sørensen MJ, Schendel D, Parner ET, Pedersen LH, Vestergaard M. Christensen J, et al. JAMA. 2013 Apr 24;309(16):1696-703. doi: 10.1001/jama.2013.2270. JAMA. 2013. PMID: 23613074 Free PMC article.
IMPORTANCE: Valproate is used for the treatment of epilepsy and other neuropsychological disorders and may be the only treatment option for women of childbearing potential. ...CONCLUSIONS AND RELEVANCE: Maternal use of valproate during pregnancy was associated with a signi …
IMPORTANCE: Valproate is used for the treatment of epilepsy and other neuropsychological disorders and may be the only treatment opti …
Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial.
Lagae L, Sullivan J, Knupp K, Laux L, Polster T, Nikanorova M, Devinsky O, Cross JH, Guerrini R, Talwar D, Miller I, Farfel G, Galer BS, Gammaitoni A, Mistry A, Morrison G, Lock M, Agarwal A, Lai WW, Ceulemans B; FAiRE DS Study Group. Lagae L, et al. Lancet. 2019 Dec 21;394(10216):2243-2254. doi: 10.1016/S0140-6736(19)32500-0. Epub 2019 Dec 17. Lancet. 2019. PMID: 31862249 Clinical Trial.
BACKGROUND: Dravet syndrome is a rare, treatment-resistant developmental epileptic encephalopathy characterised by multiple types of frequent, disabling seizures. ...METHODS: In this randomised, double-blind, placebo-controlled clinical trial …
BACKGROUND: Dravet syndrome is a rare, treatment-resistant developmental epileptic encephalopathy characterised by mult …
Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study.
Knupp KG, Scheffer IE, Ceulemans B, Sullivan J, Nickels KC, Lagae L, Guerrini R, Zuberi SM, Nabbout R, Riney K, Agarwal A, Lock M, Dai D, Farfel GM, Galer BS, Gammaitoni AR, Polega S, Davis R, Gil-Nagel A. Knupp KG, et al. Epilepsia. 2023 Jan;64(1):139-151. doi: 10.1111/epi.17431. Epub 2022 Nov 9. Epilepsia. 2023. PMID: 36196777 Free PMC article. Clinical Trial.
METHODS: Eligible patients with LGS who completed a 14-week phase 3 randomized clinical trial enrolled in an open-label extension (OLE; NCT03355209). ...RESULTS: As of October 19, 2020, 247 patients were enrolled in the OLE. Mean age was 14.3 7.6 years (79 [ …
METHODS: Eligible patients with LGS who completed a 14-week phase 3 randomized clinical trial enrolled in an open-label …
Associations Between Maternal Antenatal Corticosteroid Treatment and Psychological Developmental and Neurosensory Disorders in Children.
Räikkönen K, Gissler M, Tapiainen T, Kajantie E. Räikkönen K, et al. JAMA Netw Open. 2022 Aug 1;5(8):e2228518. doi: 10.1001/jamanetworkopen.2022.28518. JAMA Netw Open. 2022. PMID: 36001315 Free PMC article.
MAIN OUTCOMES AND MEASURES: Cox proportional hazards regression models were used to estimate the associations between antenatal corticosteroid treatment and physician-diagnosed specific developmental disorders of speech and language, scholastic skills, and motor function; …
MAIN OUTCOMES AND MEASURES: Cox proportional hazards regression models were used to estimate the associations between antenatal corticostero …
The Use of Caffeine by People with Epilepsy: the Myths and the Evidence.
Bauer PR, Sander JW. Bauer PR, et al. Curr Neurol Neurosci Rep. 2019 May 14;19(6):32. doi: 10.1007/s11910-019-0948-5. Curr Neurol Neurosci Rep. 2019. PMID: 31089986 Review.
RECENT FINDINGS: The relationship between caffeine, seizures, epilepsy, and anti-seizure drugs is not fully understood. Clinical studies are scarce. ...Until clinical studies suggest otherwise, caffeine intake should be considered as a factor in achieving and …
RECENT FINDINGS: The relationship between caffeine, seizures, epilepsy, and anti-seizure drugs is not fully understood. Clinical …
The severe epilepsy syndromes of infancy: A population-based study.
Howell KB, Freeman JL, Mackay MT, Fahey MC, Archer J, Berkovic SF, Chan E, Dabscheck G, Eggers S, Hayman M, Holberton J, Hunt RW, Jacobs SE, Kornberg AJ, Leventer RJ, Mandelstam S, McMahon JM, Mefford HC, Panetta J, Riseley J, Rodriguez-Casero V, Ryan MM, Schneider AL, Smith LJ, Stark Z, Wong F, Yiu EM, Scheffer IE, Harvey AS. Howell KB, et al. Epilepsia. 2021 Feb;62(2):358-370. doi: 10.1111/epi.16810. Epub 2021 Jan 21. Epilepsia. 2021. PMID: 33475165
METHODS: A population-based cohort study was undertaken of severe epilepsies with onset before age 18 months in Victoria, Australia. Two epileptologists reviewed clinical features, seizure videos, and electroencephalograms to diagnose International League Against Epilep …
METHODS: A population-based cohort study was undertaken of severe epilepsies with onset before age 18 months in Victoria, Australia. Two epi …
100 results