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Quoted phrase not found in phrase index: "Developmental and epileptic encephalopathy 101"
Page 1
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study; FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade D… See abstract for full author list ➔ Hamdan FF, et al. Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008. Am J Hum Genet. 2017. PMID: 29100083 Free PMC article.
Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated with frequent epileptifor …
Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epil …
Genetic variations in GABA metabolism and epilepsy.
Feng Y, Wei ZH, Liu C, Li GY, Qiao XZ, Gan YJ, Zhang CC, Deng YC. Feng Y, et al. Seizure. 2022 Oct;101:22-29. doi: 10.1016/j.seizure.2022.07.007. Epub 2022 Jul 15. Seizure. 2022. PMID: 35850019 Free article. Review.
Epilepsy is a paroxysmal brain disorder that results from an imbalance between neuronal excitation and inhibition. Gamma-aminobutyric acid (GABA) is the most important inhibitory neurotransmitter in the brain and plays an important role in the occurrence and …
Epilepsy is a paroxysmal brain disorder that results from an imbalance between neuronal excitation and inhibition. Gamma-amino …
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Thalwitzer KM, Driedger JH, Xian J, Saffari A, Zacher P, Bölsterli BK, Ruggiero SM, Sullivan KR, Datta AN, Kellinghaus C, Althaus J, Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman HMH, Debus OM, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H, Gburek-Augustat J, Preisel M, Schlump JU, Laufs M, Mammadova D, Wurst C, Prager C, Löhr-Nilles C, Martin P, Garbade SF, Platzer K, Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke JR, Runkel E, Klein B, Linden T, Schröter J, Steffeck H, Thies B, von Deimling F, Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G, Koelker S, Hoffmann GF, Ries M, Helbig I, Syrbe S. Thalwitzer KM, et al. Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5. Neurology. 2023. PMID: 37407264
DISCUSSION: We expand the spectrum of STXBP1-related disorders and provide clinical features and developmental trajectories in individuals with and without a history of epilepsy. Individuals with epilepsy, in particular epileptic spasms, and neonatal o …
DISCUSSION: We expand the spectrum of STXBP1-related disorders and provide clinical features and developmental trajectories in indivi …
Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies.
van der Veen S, Tse GTW, Ferretti A, Garone G, Post B, Specchio N, Fung VSC, Trivisano M, Scheffer IE. van der Veen S, et al. Neurology. 2023 Nov 7;101(19):e1884-e1892. doi: 10.1212/WNL.0000000000207808. Epub 2023 Sep 25. Neurology. 2023. PMID: 37748886
BACKGROUND AND OBJECTIVES: Movement disorders (MDs) are underrecognized in the developmental and epileptic encephalopathies (DEEs). There are now more than 800 genes implicated in causing the DEEs; relatively few of these rare genetic diseases are know …
BACKGROUND AND OBJECTIVES: Movement disorders (MDs) are underrecognized in the developmental and epileptic encephalopathies …
What is the role of next generation sequencing in status epilepticus?
Guerrini R, Parrini E, Marini C, Mei D. Guerrini R, et al. Epilepsy Behav. 2019 Dec;101(Pt B):106373. doi: 10.1016/j.yebeh.2019.06.017. Epub 2019 Jul 9. Epilepsy Behav. 2019. PMID: 31300382 Review.
In children, it may be a recurrent manifestation in the context of heterogeneous severe developmental genetic encephalopathies, as well as the first neurological manifestation. ...Most genetic conditions featuring status epilepticus can be assigned to specific pheno …
In children, it may be a recurrent manifestation in the context of heterogeneous severe developmental genetic encephalopathies …
SCN2A-Developmental and Epileptic Encephalopathies: Challenges to trial-readiness for non-seizure outcomes.
Berg AT, Palac H, Wilkening G, Zelko F, Schust Meyer L. Berg AT, et al. Epilepsia. 2021 Jan;62(1):258-268. doi: 10.1111/epi.16750. Epub 2020 Nov 25. Epilepsia. 2021. PMID: 33236786
OBJECTIVE: SCN2A-associated developmental and epileptic encephalopathies (DEEs) present with seizures, developmental impairments, and often both. ...RESULTS: Sixty-four participants (50 with epilepsy, 30 [47%] female, median age 49 months, inter …
OBJECTIVE: SCN2A-associated developmental and epileptic encephalopathies (DEEs) present with seizures, developmental …
Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.
Pavone P, Pappalardo XG, Ruggieri M, Falsaperla R, Parano E. Pavone P, et al. Medicine (Baltimore). 2022 Aug 5;101(31):e29413. doi: 10.1097/MD.0000000000029413. Medicine (Baltimore). 2022. PMID: 35945798 Free PMC article. Review.
Alternating Hemiplegia of Childhood (AHC) is a rare disorder with onset in the first 18 months of life characterized by stereotyped paroxysmal manifestations of tonic and dystonic attacks, nystagmus with other oculomotor abnormalities, respiratory and autonomic dysfunctions. AHC …
Alternating Hemiplegia of Childhood (AHC) is a rare disorder with onset in the first 18 months of life characterized by stereotyped paroxysm …
Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective study.
Essajee F, Urban M, Smit L, Wilmshurst JM, Solomons R, van Toorn R, Moosa S. Essajee F, et al. Seizure. 2022 Oct;101:197-204. doi: 10.1016/j.seizure.2022.09.001. Epub 2022 Sep 2. Seizure. 2022. PMID: 36084525 Free article.
OBJECTIVES: The developmental and epileptic encephalopathies (DEE) are a heterogeneous group of rare neurodevelopmental disorders, characterised by early-onset seizures that are often intractable, electroencephalographic abnormalities, and developmental …
OBJECTIVES: The developmental and epileptic encephalopathies (DEE) are a heterogeneous group of rare neurodevelopmental …
Diffusion tensor tractography imaging in pediatric epilepsy - A systematic review.
Szmuda M, Szmuda T, Springer J, Rogowska M, Sabisz A, Dubaniewicz M, Mazurkiewicz-Bełdzińska M. Szmuda M, et al. Neurol Neurochir Pol. 2016;50(1):1-6. doi: 10.1016/j.pjnns.2015.10.003. Epub 2015 Oct 29. Neurol Neurochir Pol. 2016. PMID: 26851683 Review.
PURPOSE: Recent years brought several experimental and clinical reports applying diffusion tensor tractography imaging (DTI) of the brain in epilepsy. This study was aimed to evaluate current evidence for adding the DTI sequence to the standard diagnostic magnetic r …
PURPOSE: Recent years brought several experimental and clinical reports applying diffusion tensor tractography imaging (DTI) of the brain …
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI; Epilepsy Genomics Study; Suri M, Elmslie F; Deciphering Developmental Disorders Study; Simon MEH, van Gassen KLI, Héron D, Keren B, Nava C, Connolly MB, Demos M, Farrer MJ. Guella I, et al. Am J Hum Genet. 2017 Aug 3;101(2):300-310. doi: 10.1016/j.ajhg.2017.07.004. Am J Hum Genet. 2017. PMID: 28777935 Free PMC article.
Massively parallel sequencing has revealed many de novo mutations in the etiology of developmental and epileptic encephalopathies (EEs), highlighting their genetic heterogeneity. ...Hence, in silico modeling of brain co-expression is an efficient metho …
Massively parallel sequencing has revealed many de novo mutations in the etiology of developmental and epileptic encephalop …
37 results