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...
Main Authors: | , , , |
---|---|
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 |
id |
doaj-b195a1ad47884dc7a4f66f54eb4a57cb |
---|---|
record_format |
Article |
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 |
_version_ |
1724344132736909312 |