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Epilepsy With Eyelid Myoclonia (Jeavons Syndrome).
Zawar I, Knight EP. Zawar I, et al. Pediatr Neurol. 2021 Aug;121:75-80. doi: 10.1016/j.pediatrneurol.2020.11.018. Epub 2020 Dec 1. Pediatr Neurol. 2021. PMID: 34167046 Review.
The purpose of this review is to provide a comprehensive update and highlight the distinct electroclinical features and discuss recent advances in the etiology, pathophysiology, and management strategies of epilepsy with eyelid myoclonia. Recent studies indicate that varia …
The purpose of this review is to provide a comprehensive update and highlight the distinct electroclinical features and discuss recent advan …
De novo mutations in epileptic encephalopathies.
Epi4K Consortium; Epilepsy Phenome/Genome Project; Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR. Epi4K Consortium, et al. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11. Nature. 2013. PMID: 23934111 Free PMC article.
Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms (n = 149) and Lennox-Ga …
Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here …
CHD2-Related CNS Pathologies.
Wilson MM, Henshall DC, Byrne SM, Brennan GP. Wilson MM, et al. Int J Mol Sci. 2021 Jan 8;22(2):588. doi: 10.3390/ijms22020588. Int J Mol Sci. 2021. PMID: 33435571 Free PMC article. Review.
Epileptic encephalopathies (EE) are severe epilepsy syndromes characterized by multiple seizure types, developmental delay and even regression. ...These mutations in the CHD2 gene are causative of early onset epileptic encephalopathy, abnormal brain function, and in …
Epileptic encephalopathies (EE) are severe epilepsy syndromes characterized by multiple seizure types, developmental delay and even r …
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 status epilepticus (N …
BACKGROUND AND OBJECTIVES: The genetic developmental and epileptic encephalopathies (DEEs) comprise a large group of severe epilepsy …
A comprehensive narrative review of epilepsy with eyelid myoclonia.
Smith KM, Wirrell EC, Andrade DM, Choi H, Trenité DK, Knupp KG, Nordli DR Jr, Riva A, Stern JM, Striano P, Thiele EA, Zawar I. Smith KM, et al. Epilepsy Res. 2023 Jul;193:107147. doi: 10.1016/j.eplepsyres.2023.107147. Epub 2023 Apr 26. Epilepsy Res. 2023. PMID: 37121024 Free article. Review.
It is thought to have a genetic etiology, and around one-third of patients may have a positive family history of epilepsy. Recently, specific genetic mutations have been recognized in a minority patients, including in SYNGAP1, NEXMIF, RORB, and CHD2 genes. ...Seizur …
It is thought to have a genetic etiology, and around one-third of patients may have a positive family history of epilepsy. Recently, …
CHD2-related epilepsy: novel mutations and new phenotypes.
Chen J, Zhang J, Liu A, Zhang L, Li H, Zeng Q, Yang Z, Yang X, Wu X, Zhang Y. Chen J, et al. Dev Med Child Neurol. 2020 May;62(5):647-653. doi: 10.1111/dmcn.14367. Epub 2019 Nov 1. Dev Med Child Neurol. 2020. PMID: 31677157 Free article.
The aim of this report was to refine the genotypes and phenotypes of chromodomain helicase DNA-binding protein 2 (CHD2)-related epilepsy. Seventeen patients with CHD2 mutations were enrolled. CHD2 mutations were identified by application of next-genera …
The aim of this report was to refine the genotypes and phenotypes of chromodomain helicase DNA-binding protein 2 (CHD2)-related ep …
Dravet syndrome and its mimics: Beyond SCN1A.
Steel D, Symonds JD, Zuberi SM, Brunklaus A. Steel D, et al. Epilepsia. 2017 Nov;58(11):1807-1816. doi: 10.1111/epi.13889. Epub 2017 Sep 7. Epilepsia. 2017. PMID: 28880996 Review.
OBJECTIVE: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving to drug-resistant epilepsy with accompanying cognitive, behavioral, and motor impairment. . …
OBJECTIVE: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and a …
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
De Maria B, Balestrini S, Mei D, Melani F, Pellacani S, Pisano T, Rosati A, Scaturro GM, Giordano L, Cantalupo G, Fontana E, Zammarchi C, Said E, Leuzzi V, Mastrangelo M, Galosi S, Parrini E, Guerrini R. De Maria B, et al. Am J Med Genet A. 2022 Feb;188(2):522-533. doi: 10.1002/ajmg.a.62548. Epub 2021 Oct 29. Am J Med Genet A. 2022. PMID: 34713950
CHD2 pathogenic variants have been associated with various early onset phenotypes including developmental and epileptic encephalopathy, self-limiting or pharmacoresponsive epilepsies and neurodevelopmental disorders without epilepsy. ...We also describe a novel phen …
CHD2 pathogenic variants have been associated with various early onset phenotypes including developmental and epileptic encephalopath …
Human CHD2 is a chromatin assembly ATPase regulated by its chromo- and DNA-binding domains.
Liu JC, Ferreira CG, Yusufzai T. Liu JC, et al. J Biol Chem. 2015 Jan 2;290(1):25-34. doi: 10.1074/jbc.M114.609156. Epub 2014 Nov 10. J Biol Chem. 2015. PMID: 25384982 Free PMC article.
In this study, we investigate the ATP-dependent activity of CHD2 and show that CHD2 catalyzes the assembly of chromatin into periodic arrays. We also show that the N-terminal region of CHD2, which contains tandem chromodomains, serves an auto-inhibitory role …
In this study, we investigate the ATP-dependent activity of CHD2 and show that CHD2 catalyzes the assembly of chromatin into p …
CHD2 variants are a risk factor for photosensitivity in epilepsy.
Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H; EuroEPINOMICS CoGIE Consortium; Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BP, Mefford HC, Scheffer IE, Sisodiya SM. Galizia EC, et al. Brain. 2015 May;138(Pt 5):1198-207. doi: 10.1093/brain/awv052. Epub 2015 Mar 17. Brain. 2015. PMID: 25783594 Free PMC article.
We compared CHD2 sequence data to publicly available data from 34 427 individuals, not enriched for epilepsy. ...Among epilepsy syndromes, there was over-representation of unique CHD2 variants (3/36 cases) in the archetypal photosensitive epilepsy …
We compared CHD2 sequence data to publicly available data from 34 427 individuals, not enriched for epilepsy. ...Among epil …
45 results