CHD2-Related CNS Pathologies

Epileptic encephalopathies (EE) are severe epilepsy syndromes characterized by multiple seizure types, developmental delay and even regression. This class of disorders are increasingly being identified as resulting from de novo genetic mutations including many identified mutations in the family of c...

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Main Authors: Marc-Michel Wilson, David C. Henshall, Susan M. Byrne, Gary P. Brennan
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/22/2/588
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spelling doaj-b195a1ad47884dc7a4f66f54eb4a57cb2021-01-09T00:05:49ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-01-012258858810.3390/ijms22020588CHD2-Related CNS PathologiesMarc-Michel Wilson0David C. Henshall1Susan M. Byrne2Gary P. Brennan3Department of Physiology and Medical Physics, RCSI, University of Medicine and Health Sciences, Dublin 02, IrelandDepartment of Physiology and Medical Physics, RCSI, University of Medicine and Health Sciences, Dublin 02, IrelandFutureNeuro SFI Research Centre, RCSI, University of Medicine and Health Sciences, Dublin D02 YN77, IrelandFutureNeuro SFI Research Centre, RCSI, University of Medicine and Health Sciences, Dublin D02 YN77, IrelandEpileptic encephalopathies (EE) are severe epilepsy syndromes characterized by multiple seizure types, developmental delay and even regression. This class of disorders are increasingly being identified as resulting from de novo genetic mutations including many identified mutations in the family of chromodomain helicase DNA binding (CHD) proteins. In particular, several de novo pathogenic mutations have been identified in the gene encoding chromodomain helicase DNA binding protein 2 (CHD2), a member of the sucrose nonfermenting (SNF-2) protein family of epigenetic regulators. These mutations in the CHD2 gene are causative of early onset epileptic encephalopathy, abnormal brain function, and intellectual disability. Our understanding of the mechanisms by which modification or loss of CHD2 cause this condition remains poorly understood. Here, we review what is known and still to be elucidated as regards the structure and function of CHD2 and how its dysregulation leads to a highly variable range of phenotypic presentations.https://www.mdpi.com/1422-0067/22/2/588CHD2developmental epileptic encephalopathyepigenetics
collection DOAJ
language English
format Article
sources DOAJ
author Marc-Michel Wilson
David C. Henshall
Susan M. Byrne
Gary P. Brennan
spellingShingle Marc-Michel Wilson
David C. Henshall
Susan M. Byrne
Gary P. Brennan
CHD2-Related CNS Pathologies
International Journal of Molecular Sciences
CHD2
developmental epileptic encephalopathy
epigenetics
author_facet Marc-Michel Wilson
David C. Henshall
Susan M. Byrne
Gary P. Brennan
author_sort Marc-Michel Wilson
title CHD2-Related CNS Pathologies
title_short CHD2-Related CNS Pathologies
title_full CHD2-Related CNS Pathologies
title_fullStr CHD2-Related CNS Pathologies
title_full_unstemmed CHD2-Related CNS Pathologies
title_sort chd2-related cns pathologies
publisher MDPI AG
series International Journal of Molecular Sciences
issn 1661-6596
1422-0067
publishDate 2021-01-01
description Epileptic encephalopathies (EE) are severe epilepsy syndromes characterized by multiple seizure types, developmental delay and even regression. This class of disorders are increasingly being identified as resulting from de novo genetic mutations including many identified mutations in the family of chromodomain helicase DNA binding (CHD) proteins. In particular, several de novo pathogenic mutations have been identified in the gene encoding chromodomain helicase DNA binding protein 2 (CHD2), a member of the sucrose nonfermenting (SNF-2) protein family of epigenetic regulators. These mutations in the CHD2 gene are causative of early onset epileptic encephalopathy, abnormal brain function, and intellectual disability. Our understanding of the mechanisms by which modification or loss of CHD2 cause this condition remains poorly understood. Here, we review what is known and still to be elucidated as regards the structure and function of CHD2 and how its dysregulation leads to a highly variable range of phenotypic presentations.
topic CHD2
developmental epileptic encephalopathy
epigenetics
url https://www.mdpi.com/1422-0067/22/2/588
work_keys_str_mv AT marcmichelwilson chd2relatedcnspathologies
AT davidchenshall chd2relatedcnspathologies
AT susanmbyrne chd2relatedcnspathologies
AT garypbrennan chd2relatedcnspathologies
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