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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 65"
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, …
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. Therefore, this systematic review and meta-analysis investigates the evidence of sleep disturbances in Idiopathic generalized e …
Neuropsychological deficits are common in Idiopathic generalized epilepsy patients. Learning and memory processes are closely linked …
Dravet syndrome: A systematic literature review of the illness burden.
Strzelczyk A, Lagae L, Wilmshurst JM, Brunklaus A, Striano P, Rosenow F, Schubert-Bast S. Strzelczyk A, et al. Epilepsia Open. 2023 Dec;8(4):1256-1270. doi: 10.1002/epi4.12832. Epub 2023 Oct 11. Epilepsia Open. 2023. PMID: 37750463 Free PMC article. Review.
We performed a systematic literature review and narrative synthesis according to a pre-registered protocol (Prospero: CRD42022376561) to identify the evidence associated with the burden of illness in Dravet syndrome (DS), a developmental and epileptic encephalopa …
We performed a systematic literature review and narrative synthesis according to a pre-registered protocol (Prospero: CRD42022376561) to ide …
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 …
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G. Kassabian B, et al. Epilepsia. 2024 Apr;65(4):1029-1045. doi: 10.1111/epi.17876. Epub 2024 Feb 29. Epilepsia. 2024. PMID: 38135915
Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. ...RESULTS: A large variety of seizure types was reported, although focal seizures were the most common. Encephalopathy related to status epilepticus during slow-wave …
Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. ...RESULTS: A large variety of sei …
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
Time to second-line ASM was shorter in patients with RSE (RSE 65 minutes; rESE 70 minutes; p = 0.021). Both univariable and multivariable regression analyses revealed a family history of seizures (OR 0.37; 95% CI 0.20-0.70, p = 0.0022) or a prescription for rectal diazepam …
Time to second-line ASM was shorter in patients with RSE (RSE 65 minutes; rESE 70 minutes; p = 0.021). Both univariable and multivari …
Sleep and respiratory abnormalities in adults with developmental and epileptic encephalopathies using polysomnography and video-EEG monitoring.
Sivathamboo S, Myers KA, Pattichis A, White EJ, Ku KN, O'Brien TJ, Perucca P, Kwan P. Sivathamboo S, et al. Epilepsia Open. 2023 Sep;8(3):1157-1168. doi: 10.1002/epi4.12772. Epub 2023 Jun 12. Epilepsia Open. 2023. PMID: 37277988 Free PMC article.
This study evaluated sleep and respiratory abnormalities, and their relationship with seizures, in adults with developmental and epileptic encephalopathies (DEEs). We studied consecutive adults with DEEs undergoing inpatient video-EEG monitoring and concurren …
This study evaluated sleep and respiratory abnormalities, and their relationship with seizures, in adults with developmental and e …
Ocular abnormalities in children with developmental delay.
Kavitha V, Gangrade AK, Heralgi MM, Haragoppa S. Kavitha V, et al. Indian J Ophthalmol. 2023 Oct;71(10):3328-3334. doi: 10.4103/IJO.IJO_3358_22. Indian J Ophthalmol. 2023. PMID: 37787230 Free PMC article.
METHODS: This was a cross sectional, observational study. We included children between one and 18 years, diagnosed as developmental delay in DD group, and next immediate age- and sex-matched children without developmental delay on the same day or during the s …
METHODS: This was a cross sectional, observational study. We included children between one and 18 years, diagnosed as developmenta …
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 …
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. ...Nonetheless, genotype-phenotype relationships for CLCN4-related epilepsy are not straightforward, as phenotyp …
Of 24 patients, 15 had epileptic encephalopathy and four died at an early age; 69.57% of patients had seizure onset within the …
78 results