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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 79"
Page 1
Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.
Poke G, Stanley J, Scheffer IE, Sadleir LG. Poke G, et al. Neurology. 2023 Mar 28;100(13):e1363-e1375. doi: 10.1212/WNL.0000000000206758. Epub 2022 Dec 29. Neurology. 2023. PMID: 36581463 Free PMC article.
BACKGROUND AND OBJECTIVES: We aimed to determine the population-based cumulative incidence and prevalence of developmental and epileptic encephalopathies (DEEs) and intellectual disability and epilepsy (ID+E) in children. ...Point prevalence and cumula …
BACKGROUND AND OBJECTIVES: We aimed to determine the population-based cumulative incidence and prevalence of developmental and epi …
Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial.
Knupp KG, Scheffer IE, Ceulemans B, Sullivan JE, Nickels KC, Lagae L, Guerrini R, Zuberi SM, Nabbout R, Riney K, Shore S, Agarwal A, Lock M, Farfel GM, Galer BS, Gammaitoni AR, Davis R, Gil-Nagel A. Knupp KG, et al. JAMA Neurol. 2022 Jun 1;79(6):554-564. doi: 10.1001/jamaneurol.2022.0829. JAMA Neurol. 2022. PMID: 35499850 Free PMC article. Clinical Trial.
IMPORTANCE: New treatment options are needed for patients with Lennox-Gastaut syndrome (LGS), a profoundly impairing, treatment-resistant, developmental and epileptic encephalopathy. OBJECTIVE: To evaluate the efficacy and safety of fenfluramine in patients w …
IMPORTANCE: New treatment options are needed for patients with Lennox-Gastaut syndrome (LGS), a profoundly impairing, treatment-resistant, …
Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.
Donnan AM, Schneider AL, Russ-Hall S, Churilov L, Scheffer IE. Donnan AM, et al. Neurology. 2023 Apr 18;100(16):e1712-e1722. doi: 10.1212/WNL.0000000000207080. Epub 2023 Feb 7. Neurology. 2023. PMID: 36750385 Free PMC article.
BACKGROUND AND OBJECTIVES: The genetic developmental and epileptic encephalopathies (DEEs) comprise a large group of severe epilepsy syndromes, with a wide phenotypic spectrum. Currently, the rates of convulsive status epilepticus (CSE), nonconvulsive …
BACKGROUND AND OBJECTIVES: The genetic developmental and epileptic encephalopathies (DEEs) comprise a large group of se …
Perampanel as precision therapy in rare genetic epilepsies.
Nissenkorn A, Kluger G, Schubert-Bast S, Bayat A, Bobylova M, Bonanni P, Ceulemans B, Coppola A, Di Bonaventura C, Feucht M, Fuchs A, Gröppel G, Heimer G, Herdt B, Kulikova S, Mukhin K, Nicassio S, Orsini A, Panagiotou M, Pringsheim M, Puest B, Pylaeva O, Ramantani G, Tsekoura M, Ricciardelli P, Lerman Sagie T, Stark B, Striano P, van Baalen A, De Wachter M, Cerulli Irelli E, Cuccurullo C, von Stülpnagel C, Russo A. Nissenkorn A, et al. Epilepsia. 2023 Apr;64(4):866-874. doi: 10.1111/epi.17530. Epub 2023 Feb 20. Epilepsia. 2023. PMID: 36734057
., GRIN2A) hold special interest. We aimed to collect data from a large rare genetic epilepsy cohort treated with perampanel, to detect possible subgroups with high efficacy. ...Subgroups of etiologies with high efficacy were identified. RESULTS: A total of 137 patients wi …
., GRIN2A) hold special interest. We aimed to collect data from a large rare genetic epilepsy cohort treated with perampanel, to dete …
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.
RESULTS: As of October 19, 2020, 247 patients were enrolled in the OLE. Mean age was 14.3 7.6 years (79 [32%] adults) and median fenfluramine treatment duration was 364 days; 88.3% of patients received 2-4 concomitant antiseizure medications. ...SIGNIFICANCE: Patients with …
RESULTS: As of October 19, 2020, 247 patients were enrolled in the OLE. Mean age was 14.3 7.6 years (79 [32%] adults) and median fenf …
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J. Engel C, et al. Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21. Eur J Hum Genet. 2023. PMID: 37344571 Free article.
Fifty-nine individuals presented with BRAT1-related RMFSL phenotype. Most of them had no psychomotor acquisition (100%), epilepsy (100%), microcephaly (91%), limb rigidity (93%), and died prematurely (93%). ...Seventy-six percent of the patients in this group were able to …
Fifty-nine individuals presented with BRAT1-related RMFSL phenotype. Most of them had no psychomotor acquisition (100%), epilepsy (10 …
Epilepsy with myoclonic-atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort.
Nickels K, Kossoff EH, Eschbach K, Joshi C. Nickels K, et al. Epilepsia. 2021 Jan;62(1):120-127. doi: 10.1111/epi.16752. Epub 2020 Nov 14. Epilepsia. 2021. PMID: 33190223
OBJECTIVE: Epilepsy with myoclonic-atonic seizures (EMAS) is a rare childhood onset epileptic encephalopathy. ...Development was normal in 47%, and 12% had delays in one domain, which was less likely in the case of global developmental delay after e …
OBJECTIVE: Epilepsy with myoclonic-atonic seizures (EMAS) is a rare childhood onset epileptic encephalopathy. ...Develo …
Postoperative seizure and developmental outcomes of children with hemimegalencephaly and drug-resistant epilepsy.
Liu Q, Ma J, Yu G, Zhang Q, Zhu Y, Wang R, Yu H, Liu C, Sun Y, Wang W, Wang S, Ji T, Li M, Liu X, Jiang Y, Cai L, Wu Y. Liu Q, et al. Seizure. 2021 Nov;92:29-35. doi: 10.1016/j.seizure.2021.08.006. Epub 2021 Aug 14. Seizure. 2021. PMID: 34416421 Free article.
OBJECTIVE: To evaluate seizure and developmental outcomes in the short and long term in children with hemimegalencephaly (HMEG) after surgery. ...The change of DQ shortly after surgery may be a predictor for long-term developmental change....
OBJECTIVE: To evaluate seizure and developmental outcomes in the short and long term in children with hemimegalencephaly (HMEG) after …
Psychosocial impact on siblings of patients with developmental and epileptic encephalopathies.
Bailey LD, Schwartz L, Dixon-Salazar T, Meskis MA, Galer BS, Gammaitoni AR, Schad C. Bailey LD, et al. Epilepsy Behav. 2020 Nov;112:107377. doi: 10.1016/j.yebeh.2020.107377. Epub 2020 Aug 22. Epilepsy Behav. 2020. PMID: 32846306 Free article.
OBJECTIVE: Caring for children with developmental and epileptic encephalopathies (DEEs) places substantial demands on the entire family unit, including siblings. ...RESULTS: Survey submissions (n = 248) included 128 parents and 120 siblings (9- to 12-year-old …
OBJECTIVE: Caring for children with developmental and epileptic encephalopathies (DEEs) places substantial demands on t …
Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience.
Lee S, Karp N, Zapata-Aldana E, Sadikovic B, Yang P, Balci TB, Prasad AN. Lee S, et al. Can J Neurol Sci. 2021 Mar;48(2):233-244. doi: 10.1017/cjn.2020.167. Epub 2020 Aug 3. Can J Neurol Sci. 2021. PMID: 32741404 Review.
BACKGROUND: Retrospective observational study to determine diagnostic yield and utility of genetic testing in children with epilepsy attending the Epilepsy Clinic at Children's Hospital, London, Ontario, Canada. ...RESULTS: In total, 105 children (52.38% male and 47 …
BACKGROUND: Retrospective observational study to determine diagnostic yield and utility of genetic testing in children with epilepsy …
98 results