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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy, 84"
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. ...Fifty/152 (33%) of children …
BACKGROUND AND OBJECTIVES: We aimed to determine the population-based cumulative incidence and prevalence of developmental and epi …
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A; CAUSES study; Lopez-Rangel E, Houcinat N, Barth M, den Hollander N, Hoffer MJV, Weckhuysen S; EuroEPINOMICS-RES-MAE working group; Roovers J, Djemie T, Barca D, Ceulemans B, Craiu D, Lemke JR, Korff C, Mefford HC, Meyers CT, Siegler Z, Hiatt SM, Cooper GM, Bebin EM, Snijders Blok L, Veenstra-Knol HE, Baugh EH, Brilstra EH, Volker-Touw CML, van Binsbergen E, Revah-Politi A, Pereira E, McBrian D, Pacault M, Isidor B, Le Caignec C, Gilbert-Dussardier B, Bilan F, Heinzen EL, Goldstein DB, Stevens SJC, Sands TT. Mulhern MS, et al. Ann Neurol. 2018 Nov;84(5):788-795. doi: 10.1002/ana.25350. Epub 2018 Oct 25. Ann Neurol. 2018. PMID: 30269351 Free PMC article.
We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. Most patients had epilepsy with onset in the first few years of life, often characterized by generalized seizure types, including myoclonic and atonic seizures. Our data show a b …
We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. Most patients had epilepsy with onset …
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 …
Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism.
Christensen J, Grønborg TK, Sørensen MJ, Schendel D, Parner ET, Pedersen LH, Vestergaard M. Christensen J, et al. JAMA. 2013 Apr 24;309(16):1696-703. doi: 10.1001/jama.2013.2270. JAMA. 2013. PMID: 23613074 Free PMC article.
IMPORTANCE: Valproate is used for the treatment of epilepsy and other neuropsychological disorders and may be the only treatment option for women of childbearing potential. ...CONCLUSIONS AND RELEVANCE: Maternal use of valproate during pregnancy was associated with a signi …
IMPORTANCE: Valproate is used for the treatment of epilepsy and other neuropsychological disorders and may be the only treatment opti …
Outcome in preterm infants with seizures.
Pisani F, Spagnoli C. Pisani F, et al. Handb Clin Neurol. 2019;162:401-414. doi: 10.1016/B978-0-444-64029-1.00019-9. Handb Clin Neurol. 2019. PMID: 31324322 Review.
Seizures are a strong predictor of unfavorable outcomes, including not only cerebral palsy, epilepsy, and intellectual disability, but also vision, hearing impairment, and microcephaly. The majority of patients with developmental delay are severely affected and this …
Seizures are a strong predictor of unfavorable outcomes, including not only cerebral palsy, epilepsy, and intellectual disability, bu …
Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trial.
Schoeler NE, Marston L, Lyons L, Halsall S, Jain R, Titre-Johnson S, Balogun M, Heales SJR, Eaton S, Orford M, Neal E, Reilly C, Eltze C, Stephen E, Mallick AA, O'Callaghan F, Agrawal S, Parker A, Kirkpatrick M, Brunklaus A, McLellan A, McCullagh H, Samanta R, Kneen R, Tan HJ, Devlin A, Prasad M, Rattihalli R, Basu H, Desurkar A, Williams R, Fallon P, Nazareth I, Freemantle N, Cross JH; KIWE study group. Schoeler NE, et al. Lancet Neurol. 2023 Dec;22(12):1113-1124. doi: 10.1016/S1474-4422(23)00370-8. Lancet Neurol. 2023. PMID: 37977712 Free article. Clinical Trial.
We aimed to establish the efficacy of a classic ketogenic diet at reducing seizure frequency compared with further antiseizure medicine in infants with drug-resistant epilepsy. METHODS: In this phase 4, open-label, multicentre, randomised clinical trial, infants aged 1-24 …
We aimed to establish the efficacy of a classic ketogenic diet at reducing seizure frequency compared with further antiseizure medicine in i …
Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
El Achkar CM, Harrer M, Smith L, Kelly M, Iqbal S, Maljevic S, Niturad CE, Vissers LELM, Poduri A, Yang E, Lal D, Lerche H, Møller RS, Olson HE; GABRB2 Working Group. El Achkar CM, et al. Ann Neurol. 2021 Mar;89(3):573-586. doi: 10.1002/ana.25985. Epub 2020 Dec 24. Ann Neurol. 2021. PMID: 33325057 Free PMC article.
RESULTS: Our cohort of 25 individuals from 22 families with variants in GABRB2 demonstrated a range of epilepsy phenotypes from genetic generalized epilepsy to developmental and epileptic encephalopathy. ...Functional analysis of 4 variants in t …
RESULTS: Our cohort of 25 individuals from 22 families with variants in GABRB2 demonstrated a range of epilepsy phenotypes from genet …
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 …
Brivaracetam (UCB 34714).
von Rosenstiel P. von Rosenstiel P. Neurotherapeutics. 2007 Jan;4(1):84-7. doi: 10.1016/j.nurt.2006.11.004. Neurotherapeutics. 2007. PMID: 17199019 Free PMC article. Review.
This correlates with a higher potency in suppressing epileptiform responses in vitro and a more potent and complete suppression of different seizure types in animals with an acquired or genetic epilepsy. Brivaracetam has been tested in a comprehensive safety pharmacology, …
This correlates with a higher potency in suppressing epileptiform responses in vitro and a more potent and complete suppression of different …
Development and Validation of Prediction Models for Developmental and Intellectual Outcome Following Pediatric Epilepsy Surgery.
Cloppenborg T, van Schooneveld M, Hagemann A, Hopf JL, Kalbhenn T, Otte WM, Polster T, Bien CG, Braun KPJ. Cloppenborg T, et al. Neurology. 2022 Jan 18;98(3):e225-e235. doi: 10.1212/WNL.0000000000013065. Epub 2021 Nov 18. Neurology. 2022. PMID: 34795046
External validation of the IQ models showed high accuracy (IQ 85: 0.82, confidence interval [CI] 0.75-0.91; IQ 70: 0.84, CI 0.77-0.92) and excellent discrimination (receiver operating characteristic curves: IQ 85: area under the curve [AUC] 0.90, CI 0.84-0.96; IQ 70 …
External validation of the IQ models showed high accuracy (IQ 85: 0.82, confidence interval [CI] 0.75-0.91; IQ 70: 0.84, CI 0.77-0.92 …
104 results