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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 65"
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.
Developmental delay preceded seizure onset in 54 of 56 (96%) patients for whom early developmental history was available. Developmental plateauing or regression occurred with seizures in 56 in the context of a developmental and epileptic ence …
Developmental delay preceded seizure onset in 54 of 56 (96%) patients for whom early developmental history was available. D …
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, …
Sleep quality and architecture in Idiopathic generalized epilepsy: A systematic review and meta-analysis.
Lehner J, Frueh JS, Datta AN. Lehner J, et al. Sleep Med Rev. 2022 Oct;65:101689. doi: 10.1016/j.smrv.2022.101689. Epub 2022 Aug 17. Sleep Med Rev. 2022. PMID: 36037570 Free article. Review.
Neuropsychological deficits are common in Idiopathic generalized epilepsy patients. Learning and memory processes are closely linked to sleep. ...Random effect univariate meta-analyses revealed reduced sleep efficiency, total sleep time, proportion of N2 stage and p …
Neuropsychological deficits are common in Idiopathic generalized epilepsy patients. Learning and memory processes are closely linked …
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. Schon KR, et al. BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. BMJ. 2021. PMID: 34732400 Free PMC article. Clinical Trial.
Fourteen of the diagnoses (4% of the 319 families) explained only part of the clinical features. A total of 95 different genes were implicated. Of 104 families given a diagnosis, 39 (38%) had a mitochondrial diagnosis and 65 (63%) had a non-mitochondrial diagnosis. …
Fourteen of the diagnoses (4% of the 319 families) explained only part of the clinical features. A total of 95 different genes were i …
Epilepsy: new advances.
Moshé SL, Perucca E, Ryvlin P, Tomson T. Moshé SL, et al. Lancet. 2015 Mar 7;385(9971):884-98. doi: 10.1016/S0140-6736(14)60456-6. Epub 2014 Sep 24. Lancet. 2015. PMID: 25260236
Epilepsy affects 65 million people worldwide and entails a major burden in seizure-related disability, mortality, comorbidities, stigma, and costs. ...The lives of most people with epilepsy continue to be adversely affected by gaps in knowledge, diagnosis, tr …
Epilepsy affects 65 million people worldwide and entails a major burden in seizure-related disability, mortality, comorbiditie …
Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review.
Kuersten M, Tacke M, Gerstl L, Hoelz H, Stülpnagel CV, Borggraefe I. Kuersten M, et al. Eur J Med Genet. 2020 Jan;63(1):103628. doi: 10.1016/j.ejmg.2019.02.001. Epub 2019 Feb 14. Eur J Med Genet. 2020. PMID: 30771507 Review.
BACKGROUND: KCNQ2 related disorders comprise both benign seizure disorders and early onset epileptic encephalopathies. Especially within the latter group, patients suffer from refractory seizures to standard antiepileptic drugs and developmental delay. ...RES …
BACKGROUND: KCNQ2 related disorders comprise both benign seizure disorders and early onset epileptic encephalopathies. Especia …
Long-term intellectual and developmental outcomes after pediatric epilepsy surgery: A systematic review and meta-analysis.
Stefanos-Yakoub I, Wingeier K, Held U, Latal B, Wirrell E, Smith ML, Ramantani G. Stefanos-Yakoub I, et al. Epilepsia. 2024 Feb;65(2):251-265. doi: 10.1111/epi.17834. Epub 2023 Dec 9. Epilepsia. 2024. PMID: 38031640 Review.
Although the efficacy of surgical treatment for seizure control has been established, the long-term intellectual and developmental trajectories are yet to be delineated. We conducted a systematic review and meta-analysis of studies reporting pre- and postsurgical intellige …
Although the efficacy of surgical treatment for seizure control has been established, the long-term intellectual and developmental tr …
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 …
Epileptic spasms: A South African overview of aetiologies, interventions, and outcomes.
Raga SV, Essajee F, Solomons R, Van Toorn R, Wilmshurst JM. Raga SV, et al. Dev Med Child Neurol. 2023 Apr;65(4):526-533. doi: 10.1111/dmcn.15433. Epub 2022 Oct 13. Dev Med Child Neurol. 2023. PMID: 36229895 Free article.
A lead time to treatment (LTTT) of less than 1 month was more likely in the epileptic encephalopathy/developmental and epileptic encephalopathy (DEE) group: 58 out of 92 (63%), compared to 28 out of 76 (37%) of those with developmental …
A lead time to treatment (LTTT) of less than 1 month was more likely in the epileptic encephalopathy/developmental and …
The molecular and phenotypic spectrum of CLCN4-related epilepsy.
He H, Guzman RE, Cao D, Sierra-Marquez J, Yin F, Fahlke C, Peng J, Stauber T. He H, et al. Epilepsia. 2021 Jun;62(6):1401-1415. doi: 10.1111/epi.16906. Epub 2021 May 5. Epilepsia. 2021. PMID: 33951195
Of 24 patients, 15 had epileptic encephalopathy and four died at an early age; 69.57% of patients had seizure onset within the first year of life. ...SIGNIFICANCE: Pathogenic CLCN4 variants contribute significantly to the genetic etiology of epilepsy. The phe …
Of 24 patients, 15 had epileptic encephalopathy and four died at an early age; 69.57% of patients had seizure onset within the …
79 results