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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy 97"
Page 1
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu M, Jan… See abstract for full author list ➔ Johannesen KM, et al. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel Nav1.6, with the aim of describing clinical phenotypes related to functional effects. Six differ …
We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, en …
Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies.
Guerrini R, Balestrini S, Wirrell EC, Walker MC. Guerrini R, et al. Neurology. 2021 Oct 26;97(17):817-831. doi: 10.1212/WNL.0000000000012744. Epub 2021 Sep 7. Neurology. 2021. PMID: 34493617 Free PMC article. Review.
A monogenic etiology can be identified in up to 40% of people with severe epilepsy. To address earlier and more appropriate treatment strategies, clinicians are required to know the implications that specific genetic causes might have on pathophysiology, natural history, c …
A monogenic etiology can be identified in up to 40% of people with severe epilepsy. To address earlier and more appropriate treatment …
Drug management for acute tonic-clonic convulsions including convulsive status epilepticus in children.
McTague A, Martland T, Appleton R. McTague A, et al. Cochrane Database Syst Rev. 2018 Jan 10;1(1):CD001905. doi: 10.1002/14651858.CD001905.pub3. Cochrane Database Syst Rev. 2018. PMID: 29320603 Free PMC article. Review.
SELECTION CRITERIA: Randomised and quasi-randomised trials comparing any anticonvulsant drugs used for the treatment of an acute tonic-clonic convulsion including convulsive status epilepticus in children. ...Furthermore, we found no statistically significant or cli …
SELECTION CRITERIA: Randomised and quasi-randomised trials comparing any anticonvulsant drugs used for the treatment of an acu …
Novel therapies for epilepsy in the pipeline.
Mesraoua B, Deleu D, Kullmann DM, Shetty AK, Boon P, Perucca E, Mikati MA, Asadi-Pooya AA. Mesraoua B, et al. Epilepsy Behav. 2019 Aug;97:282-290. doi: 10.1016/j.yebeh.2019.04.042. Epub 2019 Jul 6. Epilepsy Behav. 2019. PMID: 31284159 Review.
Despite the availability of many antiepileptic drugs (AEDs) (old and newly developed) and, as recently suggested, their optimization in the treatment of patients with uncontrolled seizures, more than 30% of patients with epilepsy continue to experience seizures and have dr …
Despite the availability of many antiepileptic drugs (AEDs) (old and newly developed) and, as recently suggested, their optimization in the …
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.
Olson HE, Demarest ST, Pestana-Knight EM, Swanson LC, Iqbal S, Lal D, Leonard H, Cross JH, Devinsky O, Benke TA. Olson HE, et al. Pediatr Neurol. 2019 Aug;97:18-25. doi: 10.1016/j.pediatrneurol.2019.02.015. Epub 2019 Feb 23. Pediatr Neurol. 2019. PMID: 30928302 Free PMC article. Review.
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene CDKL5. This unique disorder includes early infantile onset refractory epilepsy, hypotonia, developmental intell …
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic varian …
Associations Between Maternal Antenatal Corticosteroid Treatment and Psychological Developmental and Neurosensory Disorders in Children.
Räikkönen K, Gissler M, Tapiainen T, Kajantie E. Räikkönen K, et al. JAMA Netw Open. 2022 Aug 1;5(8):e2228518. doi: 10.1001/jamanetworkopen.2022.28518. JAMA Netw Open. 2022. PMID: 36001315 Free PMC article.
MAIN OUTCOMES AND MEASURES: Cox proportional hazards regression models were used to estimate the associations between antenatal corticosteroid treatment and physician-diagnosed specific developmental disorders of speech and language, scholastic skills, and motor function; …
MAIN OUTCOMES AND MEASURES: Cox proportional hazards regression models were used to estimate the associations between antenatal corticostero …
A phase 1b/2a study of soticlestat as adjunctive therapy in participants with developmental and/or epileptic encephalopathies.
Halford JJ, Sperling MR, Arkilo D, Asgharnejad M, Zinger C, Xu R, During M, French JA. Halford JJ, et al. Epilepsy Res. 2021 Aug;174:106646. doi: 10.1016/j.eplepsyres.2021.106646. Epub 2021 Apr 22. Epilepsy Res. 2021. PMID: 33940389 Free article. Clinical Trial.
OBJECTIVE: To evaluate the safety, tolerability, and pharmacokinetics of soticlestat, a first-in-class cholesterol 24-hydroxylase inhibitor, in adults with developmental and/or epileptic encephalopathies (DEE). METHODS: The study comprised a 30-day, random …
OBJECTIVE: To evaluate the safety, tolerability, and pharmacokinetics of soticlestat, a first-in-class cholesterol 24-hydroxylase inhibitor, …
Clinical characteristics and treatment experience of individuals with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE): Findings from an online caregiver survey.
Cutts A, Savoie H, Hammer MF, Schreiber J, Grayson C, Luzon C, Butterfield N, Pimstone SN, Aycardi E, Harden C, Yonan C, Jen E, Nguyen T, Carmack T, Haubenberger D. Cutts A, et al. Seizure. 2022 Apr;97:50-57. doi: 10.1016/j.seizure.2022.03.008. Epub 2022 Mar 10. Seizure. 2022. PMID: 35325842 Free article.
PURPOSE: SCN8A developmental epileptic encephalopathy (SCN8A-DEE) is a rare and severe genetic epilepsy syndrome characterized by early-onset developmental delay, cognitive impairment, and intractable seizures. ...Further collaboration between f …
PURPOSE: SCN8A developmental epileptic encephalopathy (SCN8A-DEE) is a rare and severe genetic epilepsy syndrome …
Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial.
van Arnhem MML, van den Munckhof B, Arzimanoglou A, Perucca E, Metsähonkala L, Rubboli G, Søndergaard Khinchi M, de Saint-Martin A, Klotz KA, Jacobs J, Cross JH, Garcia Morales I, Otte WM, van Teeseling HC, Leijten FSS, Braun KPJ, Jansen FE; RESCUE ESES study group. van Arnhem MML, et al. Lancet Neurol. 2024 Feb;23(2):147-156. doi: 10.1016/S1474-4422(23)00409-X. Epub 2023 Dec 8. Lancet Neurol. 2024. PMID: 38081201 Clinical Trial.
BACKGROUND: Epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS) is a rare syndrome associated with cognitive and behavioural regression. ...Data were analysed in the intention-to-treat population, which included all children as randomised w …
BACKGROUND: Epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS) is a rare syndrome associated with cognitiv …
Development and validation of a diagnostic aid for convulsive epilepsy in sub-Saharan Africa: a retrospective case-control study.
Jones GD, Kariuki SM, Ngugi AK, Mwesige AK, Masanja H, Owusu-Agyei S, Wagner R, Cross JH, Sander JW, Newton CR, Sen A; EPInA Study Group. Jones GD, et al. Lancet Digit Health. 2023 Apr;5(4):e185-e193. doi: 10.1016/S2589-7500(22)00255-2. Lancet Digit Health. 2023. PMID: 36963908 Free article.
FINDINGS: We analysed epilepsy-specific data from 4097 people, of whom 1985 (48.5%) had convulsive epilepsy, and 2112 were controls. ...INTERPRETATION: On the basis of these findings, we developed the Epilepsy Diagnostic Companion as a predictive model and ap …
FINDINGS: We analysed epilepsy-specific data from 4097 people, of whom 1985 (48.5%) had convulsive epilepsy, and 2112 were con …
43 results