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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.
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. He …
These mutations in the CHD2 gene are causative of early onset epileptic encephalopathy, abnormal brain function, and intellectual dis …
CHD2-Related Neurodevelopmental Disorders.
Carvill GL, Mefford HC. Carvill GL, et al. 2015 Dec 10 [updated 2021 Jan 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Dec 10 [updated 2021 Jan 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 26677509 Free Books & Documents. Review.
Intellectual disability and/or autism spectrum disorders are common. DIAGNOSIS/TESTING: The diagnosis of a CHD2-related neurodevelopmental disorder is established in a proband with suggestive findings and a heterozygous pathogenic variant in CHD2 identified by molec …
Intellectual disability and/or autism spectrum disorders are common. DIAGNOSIS/TESTING: The diagnosis of a CHD2-related neurodevelopm …
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC. Carvill GL, et al. Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26. Nat Genet. 2013. PMID: 23708187 Free PMC article.
Six of the 46 candidate genes had 1 or more pathogenic variants, collectively accounting for 3% of our cohort. We show that de novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively. ...
Six of the 46 candidate genes had 1 or more pathogenic variants, collectively accounting for 3% of our cohort. We show that de novo CHD2 …
Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy.
Lamar KJ, Carvill GL. Lamar KJ, et al. Front Mol Neurosci. 2018 Jun 15;11:208. doi: 10.3389/fnmol.2018.00208. eCollection 2018. Front Mol Neurosci. 2018. PMID: 29962935 Free PMC article. Review.
Of the nine CHD family members, CHD2 is the only one that leads to a brain-restricted phenotype when disrupted in humans. This suggests that despite being expressed ubiquitously, CHD2 has a unique role in human brain development and function. In this review, we will …
Of the nine CHD family members, CHD2 is the only one that leads to a brain-restricted phenotype when disrupted in humans. This sugges …
Clinical analysis of CHD2 gene mutations in pediatric patients with epilepsy.
Feng W, Fang F, Wang X, Chen C, Lu J, Deng J. Feng W, et al. Pediatr Investig. 2022 Apr 26;6(2):93-99. doi: 10.1002/ped4.12321. eCollection 2022 Jun. Pediatr Investig. 2022. PMID: 35774528 Free PMC article.
IMPORTANCE: CHD2 is a member of the chromodomain helicase DNA-binding (CHD) family of proteins, which have important roles in the regulation of gene expression. Dysregulation of this protein may lead to various disorders. OBJECTIVE: To delineate the genotypes and phenotype …
IMPORTANCE: CHD2 is a member of the chromodomain helicase DNA-binding (CHD) family of proteins, which have important roles in the reg …
The neurodevelopmental spectrum seen with CHD2 variants.
Willison AG, Thomas RH. Willison AG, et al. Pediatr Investig. 2022 Apr 26;6(2):147-148. doi: 10.1002/ped4.12323. eCollection 2022 Jun. Pediatr Investig. 2022. PMID: 35774518 Free PMC article. No abstract available.
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.
Seizures were controlled in nine patients. Q1392TfsX17 may be a hot-spot mutation of CHD2. West syndrome was observed as a new phenotype of CHD2 mutation. ...WHAT THIS PAPER ADDS: Q1392TfsX17 maybe the hot-spot mutation of CHD2. West syndrome could be a new p …
Seizures were controlled in nine patients. Q1392TfsX17 may be a hot-spot mutation of CHD2. West syndrome was observed as a new phenot …
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.
Recent studies indicate that variations of certain genes including CHD2 (chromodomain helicase DNA-binding protein 2), KCNB1, KIAA2022, and NAA10 may occur in these patients. ...
Recent studies indicate that variations of certain genes including CHD2 (chromodomain helicase DNA-binding protein 2), KCNB1, KIAA202 …
Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory.
Kim YJ, Khoshkhoo S, Frankowski JC, Zhu B, Abbasi S, Lee S, Wu YE, Hunt RF. Kim YJ, et al. Neuron. 2018 Dec 5;100(5):1180-1193.e6. doi: 10.1016/j.neuron.2018.09.049. Epub 2018 Oct 18. Neuron. 2018. PMID: 30344048 Free PMC article.
However, it is unknown how CHD2 mutations lead to impaired brain function. Here we report mice with heterozygous mutations in Chd2 exhibit deficits in neuron proliferation and a shift in neuronal excitability that included divergent changes in excitatory and inhibit …
However, it is unknown how CHD2 mutations lead to impaired brain function. Here we report mice with heterozygous mutations in Chd2 …
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.
Zebrafish larvae with chd2 knockdown were tested for photosensitivity. Chd2 knockdown markedly enhanced mild innate zebrafish larval photosensitivity. ...Unique CHD2 variants are also associated with photosensitivity in common epilepsies. ...
Zebrafish larvae with chd2 knockdown were tested for photosensitivity. Chd2 knockdown markedly enhanced mild innate zebrafish …
225 results