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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 53"
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.
RESULTS: We included 57 patients (53% male, median age 8 years) with SYNGAP1 mutations (n = 53) or microdeletions (n = 4). ...Developmental plateauing or regression occurred with seizures in 56 in the context of a developmental and epileptic
RESULTS: We included 57 patients (53% male, median age 8 years) with SYNGAP1 mutations (n = 53) or microdeletions (n = 4). ... …
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. ...The estimated absolute risk after 14 years of follow-up was 1.53% (95% CI, 1.47%-1.58%) fo …
IMPORTANCE: Valproate is used for the treatment of epilepsy and other neuropsychological disorders and may be the only treatment opti …
SCN2A-Developmental and Epileptic Encephalopathies: Challenges to trial-readiness for non-seizure outcomes.
Berg AT, Palac H, Wilkening G, Zelko F, Schust Meyer L. Berg AT, et al. Epilepsia. 2021 Jan;62(1):258-268. doi: 10.1111/epi.16750. Epub 2020 Nov 25. Epilepsia. 2021. PMID: 33236786
OBJECTIVE: SCN2A-associated developmental and epileptic encephalopathies (DEEs) present with seizures, developmental impairments, and often both. ...Raw score analyses, however, revealed several subdomains with substantial floor effects (eg, community …
OBJECTIVE: SCN2A-associated developmental and epileptic encephalopathies (DEEs) present with seizures, developmental
Intracranial cysts: incidental or neurodevelopmental?
Dirik MA, Sanlidag B. Dirik MA, et al. Childs Nerv Syst. 2023 Mar;39(3):775-780. doi: 10.1007/s00381-022-05724-z. Epub 2022 Nov 2. Childs Nerv Syst. 2023. PMID: 36323954
Demographic and clinical findings were evaluated from the hospital's database and patients' files. ...Early evaluation in patients with intracranial cysts for developmental delay and neuropsychiatric problems is important....
Demographic and clinical findings were evaluated from the hospital's database and patients' files. ...Early evaluation in patients wi …
Causes of death among people with myelomeningocele: A multi-institutional 47-year retrospective study.
Szymanski KM, Adams CM, Alkawaldeh MY, Austin PF, Bowman RM, Castillo H, Castillo J, Chu DI, Estrada CR, Fascelli M, Frimberger DC, Gargollo PC, Hamdan DG, Hecht SL, Hopson B, Husmann DA, Jacobs MA, MacNeily AE, McLeod DJ, Metcalfe PD, Meyer T, Misseri R, O'Neil J, Rensing AJ, Routh JC, Rove KO, Sawin KJ, Schlomer BJ, Shamblin I, Sherlock RL, Slobodov G, Stout J, Tanaka ST, Weiss DA, Wiener JS, Wood HM, Yerkes EB, Blount J. Szymanski KM, et al. J Pediatr Rehabil Med. 2023;16(4):605-619. doi: 10.3233/PRM-220086. J Pediatr Rehabil Med. 2023. PMID: 38073338 Free PMC article.
METHODS: A retrospective review was performed of 16 institutions in Canada/United States of non-random convenience sample of people with MMC (born > = 1972) using non-parametric statistics. ...Unexplained deaths while asleep (4%) were independent of age, shunt status, a …
METHODS: A retrospective review was performed of 16 institutions in Canada/United States of non-random convenience sample of people w …
Early Clinical Variables Associated With Refractory Convulsive Status Epilepticus in Children.
Peariso K, Arya R, Glauser T, Abend NS, Barcia Aguilar C, Amengual-Gual M, Anderson A, Appavu BL, Brenton JN, Carpenter J, Chapman KE, Clark J, Gaillard WD, Gaínza-Lein M, Goldstein J, Goodkin H, Grinspan Z, Guerriero RM, Horn PS, Huh L, Kahoud R, Kelley SA, Kossoff EH, Kapur K, Lai YC, Marquis BO, McDonough T, Mikati MA, Morgan L, Novotny E, Ostendorf AP, Payne ET, Piantino J, Riviello J, Sands T, Stafstrom CE, Tasker RC, Tchapyjnikov D, Vasquez A, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; for Pediatric Status Epilepticus Research Group (pSERG). Peariso K, et al. Neurology. 2023 Aug 1;101(5):e546-e557. doi: 10.1212/WNL.0000000000207472. Epub 2023 Jun 9. Neurology. 2023. PMID: 37295955
These subpopulations were obtained from the pediatric Status Epilepticus Research Group study cohort. We explored clinical variables that could be acquired early after presentation to emergency medical services with univariate analysis of the raw data. ...CLASSIFICATION OF …
These subpopulations were obtained from the pediatric Status Epilepticus Research Group study cohort. We explored clinical variables …
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 …
Safety and Tolerability of Transdermal Cannabidiol Gel in Children With Developmental and Epileptic Encephalopathies: A Nonrandomized Controlled Trial.
Scheffer IE, Hulihan J, Messenheimer J, Ali S, Keenan N, Griesser J, Gutterman DL, Sebree T, Sadleir LG. Scheffer IE, et al. JAMA Netw Open. 2021 Sep 1;4(9):e2123930. doi: 10.1001/jamanetworkopen.2021.23930. JAMA Netw Open. 2021. PMID: 34477852 Free PMC article. Clinical Trial.
IMPORTANCE: Developmental and epileptic encephalopathies (DEEs) are the most severe group of drug-resistant epilepsies. ...TRIAL REGISTRATION: ClinicalTrials.gov Identifier: ACTRN12618000516280....
IMPORTANCE: Developmental and epileptic encephalopathies (DEEs) are the most severe group of drug-resistant epilepsies. …
Rare diseases - rare outcomes: Assessing communication abilities for the developmental and epileptic encephalopathies.
Berg AT, Kaat AJ, Zelko F, Wilkening G. Berg AT, et al. Epilepsy Behav. 2022 Mar;128:108586. doi: 10.1016/j.yebeh.2022.108586. Epub 2022 Feb 11. Epilepsy Behav. 2022. PMID: 35158285
OBJECTIVE: Developmental and epileptic encephalopathies (DEE) entail moderate to profound communication and other impairments that are poorly measured by typical clinical outcomes assessments (COA). ...SIGNIFICANCE: Raw scores and out-of-range COAs may …
OBJECTIVE: Developmental and epileptic encephalopathies (DEE) entail moderate to profound communication and other impai …
Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: A systematic review and meta-analysis.
Sharawat IK, Panda PK, Kasinathan A, Panda P, Dawman L, Joshi K. Sharawat IK, et al. Seizure. 2021 Feb;85:119-126. doi: 10.1016/j.seizure.2020.12.016. Epub 2021 Jan 11. Seizure. 2021. PMID: 33461030 Free article.
BACKGROUND: Dravet syndrome (DS) is an infantile-onset developmental and epileptic encephalopathy syndrome with limited treatment options. ...Only Randomized Controlled Trials (RCT) were included in the meta-analysis. ...
BACKGROUND: Dravet syndrome (DS) is an infantile-onset developmental and epileptic encephalopathy syndrome with limited …
74 results