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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 65"
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. ...Cumulative incidence for ea …
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, …
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 …
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.
Of 104 families given a diagnosis, 39 (38%) had a mitochondrial diagnosis and 65 (63%) had a non-mitochondrial diagnosis. CONCLUSION: Whole genome sequencing is a useful diagnostic test in patients with suspected mitochondrial disorders, yielding a diagnosis in a further 3 …
Of 104 families given a diagnosis, 39 (38%) had a mitochondrial diagnosis and 65 (63%) had a non-mitochondrial diagnosis. CONCLUSION: …
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 …
DYNC1H1-related epilepsy: Genotype-phenotype correlation.
Liu W, Cheng M, Zhu Y, Chen Y, Yang Y, Chen H, Niu X, Tian X, Yang X, Zhang Y. Liu W, et al. Dev Med Child Neurol. 2023 Apr;65(4):534-543. doi: 10.1111/dmcn.15414. Epub 2022 Sep 29. Dev Med Child Neurol. 2023. PMID: 36175372 Free article.
Mild-to-severe developmental delay was present in all patients. Six patients were diagnosed with West syndrome and one was diagnosed with epileptic encephalopathy with continuous spikes and waves during slow sleep (CSWS). ...Most patients had a MCD and dev …
Mild-to-severe developmental delay was present in all patients. Six patients were diagnosed with West syndrome and one was diagnosed …
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denommé-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gérard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Héron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G, Lecoquierre F. Coursimault J, et al. Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8. Hum Genet. 2022. PMID: 34748075 Free article.
Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo mutations in several developm …
Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 mic …
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 …
Epileptogenesis in neonatal brain.
Katsarou AM, Galanopoulou AS, Moshé SL. Katsarou AM, et al. Semin Fetal Neonatal Med. 2018 Jun;23(3):159-167. doi: 10.1016/j.siny.2017.12.004. Epub 2017 Dec 23. Semin Fetal Neonatal Med. 2018. PMID: 29467100 Free PMC article. Review.
Epilepsy is a chronic neurological disorder affecting 65 million people worldwide. ...Here, we discuss some of these processes that may affect seizure generation and epileptogenesis in the neonatal brain....
Epilepsy is a chronic neurological disorder affecting 65 million people worldwide. ...Here, we discuss some of these processes …
Childhood neurodevelopmental disorders and maternal diabetes: A population-based cohort study.
Chen KR, Yu T, Lien YJ, Chou YY, Kuo PL. Chen KR, et al. Dev Med Child Neurol. 2023 Jul;65(7):933-941. doi: 10.1111/dmcn.15488. Epub 2022 Dec 21. Dev Med Child Neurol. 2023. PMID: 36541040
The effect of T1DM on NDDs was the largest, followed by T2DM, then GDM. T1DM was associated with an increased risk of developmental delay, intellectual disability, and epilepsy/intellectual spasms in offspring. T2DM was associated with an increased risk of ASD, ADHD …
The effect of T1DM on NDDs was the largest, followed by T2DM, then GDM. T1DM was associated with an increased risk of developmental d …
129 results