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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 59"
Page 1
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, …
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, Chiesa V, Christensen J, Dalla Bernardina B, Ellis CA, Furia F, Gardiner F, Giron C, Guerrini R, Klein KM, Korff C, Krijtova H, Leffler M, Lerche H, Lesca G, Lewis-Smith D, Marini C, Marjanovic D, Mazzola L, McKeown Ruggiero S, Mochel F, Ramond F, Reif PS, Richard-Mornas A, Rosenow F, Schropp C, Thomas RH, Vignoli A, Weber Y, Palmer E, Helbig I, Scheffer IE, Striano P, Møller RS, Gardella E, Weckhuysen S. Stamberger H, et al. Neurology. 2022 Jul 19;99(3):e221-e233. doi: 10.1212/WNL.0000000000200715. Epub 2022 Jun 3. Neurology. 2022. PMID: 35851549 Free PMC article.
BACKGROUND AND OBJECTIVES: Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy (STXBP1-DEE). We aimed to investigate the natural history of STXBP1-DEE in adults focusing on seizure evolution, the presence of moveme …
BACKGROUND AND OBJECTIVES: Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy …
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Thalwitzer KM, Driedger JH, Xian J, Saffari A, Zacher P, Bölsterli BK, Ruggiero SM, Sullivan KR, Datta AN, Kellinghaus C, Althaus J, Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman HMH, Debus OM, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H, Gburek-Augustat J, Preisel M, Schlump JU, Laufs M, Mammadova D, Wurst C, Prager C, Löhr-Nilles C, Martin P, Garbade SF, Platzer K, Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke JR, Runkel E, Klein B, Linden T, Schröter J, Steffeck H, Thies B, von Deimling F, Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G, Koelker S, Hoffmann GF, Ries M, Helbig I, Syrbe S. Thalwitzer KM, et al. Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5. Neurology. 2023. PMID: 37407264
Individuals with early epilepsy onset had higher speech impairment scores (p = 0.02) than individuals with later epilepsy onset. ...Individuals with epilepsy, in particular epileptic spasms, and neonatal or early-onset presented with less favora …
Individuals with early epilepsy onset had higher speech impairment scores (p = 0.02) than individuals with later epilepsy …
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, com …
OBJECTIVE: SCN2A-associated developmental and epileptic encephalopathies (DEEs) present with seizures, developmental …
Clinical characteristics and surgical outcomes in children with mild malformation of cortical development and oligodendroglial hyperplasia in epilepsy.
Liu X, Zhu Y, Liu Q, Zhang S, Wu P, Sun Y, Zhang J, Wang R, Ji T, Wang S, Liu X, Jiang Y, Cai L, Wu Y. Liu X, et al. Epilepsia Open. 2023 Sep;8(3):898-911. doi: 10.1002/epi4.12755. Epub 2023 May 16. Epilepsia Open. 2023. PMID: 37144544 Free PMC article.
OBJECTIVE: Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a new and rare histopathological entity of cortical developmental malformations. ...The lesions were mainly multilobar (59.5% multiple lobes and 8.1% …
OBJECTIVE: Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a new and rare histopat …
Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.
Carvill GL, Jansen S, Lacroix A, Zemel M, Mehaffey M, De Vries P, Brunner HG, Scheffer IE, De Vries BBA, Vissers LELM, Mefford HC. Carvill GL, et al. Dev Med Child Neurol. 2021 Dec;63(12):1441-1447. doi: 10.1111/dmcn.14989. Epub 2021 Jul 11. Dev Med Child Neurol. 2021. PMID: 34247411 Free article.
AIM: To determine whether genes that cause developmental and epileptic encephalopathies (DEEs) are more commonly implicated in intellectual disability with epilepsy as a comorbid feature than in intellectual disability only. METHOD: We performed target …
AIM: To determine whether genes that cause developmental and epileptic encephalopathies (DEEs) are more commonly implic …
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.
The proportion of patients who were moderate to severe delay declined from 97% preoperatively to 76% at least 1 year after surgery. Catch-up, stabilization, and regression of developmental quotient (DQ) was observed in 41%, 35%, and 24% of children 3 months after su …
The proportion of patients who were moderate to severe delay declined from 97% preoperatively to 76% at least 1 year after surgery. Catch-up …
Clinical and genetic profile of children with unexplained intellectual disability/developmental delay and epilepsy.
Nouri N, Bahreini A, Nasiri J, Salehi M. Nouri N, et al. Epilepsy Res. 2021 Nov;177:106782. doi: 10.1016/j.eplepsyres.2021.106782. Epub 2021 Oct 5. Epilepsy Res. 2021. PMID: 34695666
OBJECTIVE: This study was conducted to evaluate the validity of performing whole exome sequencing in children with unexplained intellectual disability (ID), developmental delay (DD), and epilepsy. METHODS: We enrolled 61 Iranian children with unexplained DD/ID, and …
OBJECTIVE: This study was conducted to evaluate the validity of performing whole exome sequencing in children with unexplained intellectual …
Spike propagation mapping reveals effective connectivity and predicts surgical outcome in epilepsy.
Matarrese MAG, Loppini A, Fabbri L, Tamilia E, Perry MS, Madsen JR, Bolton J, Stone SSD, Pearl PL, Filippi S, Papadelis C. Matarrese MAG, et al. Brain. 2023 Sep 1;146(9):3898-3912. doi: 10.1093/brain/awad118. Brain. 2023. PMID: 37018068 Free PMC article.
Interictal spikes recorded with electrophysiological techniques are considered key biomarkers of epilepsy. Yet, they lack specificity, mostly because they propagate across brain areas forming networks. ...Finally, resection of spike onset, but not area of spike spre …
Interictal spikes recorded with electrophysiological techniques are considered key biomarkers of epilepsy. Yet, they lack specificity …
Clinical Factors Related to Outcomes in Pediatric Epilepsy Surgery: Insight into Predictors of Poor Surgical Outcome.
Oshino S, Tani N, Khoo HM, Kagitani-Shimono K, Nabatame S, Tominaga K, Yanagisawa T, Hirata M, Kishima H. Oshino S, et al. Neurol Med Chir (Tokyo). 2023 May 15;63(5):173-178. doi: 10.2176/jns-nmc.2022-0300. Epub 2023 Apr 6. Neurol Med Chir (Tokyo). 2023. PMID: 37019652 Free PMC article. Review.
Successful surgery for drug-resistant pediatric epilepsy can facilitate motor and cognitive development and improve quality of life by resolution or reduction of epileptic seizures. ...The following clinical factors were analyzed in relation to surgical outcome: sex …
Successful surgery for drug-resistant pediatric epilepsy can facilitate motor and cognitive development and improve quality of life b …
81 results