The neurodevelopmental spectrum seen with CHD2 variants

doi:10.1002/ped4.12323

Editorial

. 2022 Apr 26;6(2):147-148.

doi: 10.1002/ped4.12323. eCollection 2022 Jun.

The neurodevelopmental spectrum seen with CHD2 variants

Alice G Willison^{1

2}, Rhys H Thomas^{1

2}

Affiliations

¹ Faculty of Medical Sciences Translational and Clinical Research Institute Newcastle University Newcastle UK.
² Royal Victoria Infirmary Newcastle Upon Tyne NHS Foundation Trust Newcastle UK.

PMID: 35774518
PMCID: PMC9218968
DOI: 10.1002/ped4.12323

Editorial

The neurodevelopmental spectrum seen with CHD2 variants

Alice G Willison et al. Pediatr Investig. 2022.

. 2022 Apr 26;6(2):147-148.

doi: 10.1002/ped4.12323. eCollection 2022 Jun.

Authors

Alice G Willison^{1

2}, Rhys H Thomas^{1

2}

Affiliations

¹ Faculty of Medical Sciences Translational and Clinical Research Institute Newcastle University Newcastle UK.
² Royal Victoria Infirmary Newcastle Upon Tyne NHS Foundation Trust Newcastle UK.

PMID: 35774518
PMCID: PMC9218968
DOI: 10.1002/ped4.12323

No abstract available

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Conflict of interest statement

None.

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References

1. Feng W, Fang F, Wang X, Chen X, Lv J, Deng J. Clinical analysis of CHD2 gene mutations in children with epilepsy. Pediatr Investig. 2022;6:93‐99. DOI: 10.1002/ped4.12321 - DOI - PMC - PubMed
1. Kim YJ, Khoshkhoo S, Frankowski JC, Zhu B, Abbasi S, Lee S, et al. CHD2 is necessary for neural circuit development and long‐term memory. Neuron. 2018;100:1180‐1193.e6. DOI: 10.1016/j.neuron.2018.09.049 - DOI - PMC - PubMed
1. Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, et al. CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems. J Neurodev Disord. 2014;6:9. DOI: 10.1186/1866-1955-6-9 - DOI - PMC - PubMed
1. Thomas RH, Zhang LM, Carvill GL, Archer JS, Heavin SB, Mandelstam SA, et al. CHD2 myoclonic encephalopathy is frequently associated with self‐induced seizures. Neurology. 2015;84:951‐958. DOI: 10.1212/WNL.0000000000001305 - DOI - PMC - PubMed
1. De Maria B, Balestrini S, Mei D, Melani F, Pellacani S, Pisano T, et al. Expanding the genetic and phenotypic spectrum of CHD2‐related disease: from early neurodevelopmental disorders to adult‐onset epilepsy. Am J Med Genet A. 2022;188:522‐533. DOI: 10.1002/ajmg.a.62548 - DOI - PubMed

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[1] Feng W, Fang F, Wang X, Chen X, Lv J, Deng J. Clinical analysis of CHD2 gene mutations in children with epilepsy. Pediatr Investig. 2022;6:93‐99. DOI: 10.1002/ped4.12321 - DOI - PMC - PubMed

[2] Feng W, Fang F, Wang X, Chen X, Lv J, Deng J. Clinical analysis of CHD2 gene mutations in children with epilepsy. Pediatr Investig. 2022;6:93‐99. DOI: 10.1002/ped4.12321 - DOI - PMC - PubMed

[3] Kim YJ, Khoshkhoo S, Frankowski JC, Zhu B, Abbasi S, Lee S, et al. CHD2 is necessary for neural circuit development and long‐term memory. Neuron. 2018;100:1180‐1193.e6. DOI: 10.1016/j.neuron.2018.09.049 - DOI - PMC - PubMed

[4] Kim YJ, Khoshkhoo S, Frankowski JC, Zhu B, Abbasi S, Lee S, et al. CHD2 is necessary for neural circuit development and long‐term memory. Neuron. 2018;100:1180‐1193.e6. DOI: 10.1016/j.neuron.2018.09.049 - DOI - PMC - PubMed

[5] Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, et al. CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems. J Neurodev Disord. 2014;6:9. DOI: 10.1186/1866-1955-6-9 - DOI - PMC - PubMed

[6] Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, et al. CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems. J Neurodev Disord. 2014;6:9. DOI: 10.1186/1866-1955-6-9 - DOI - PMC - PubMed

[7] Thomas RH, Zhang LM, Carvill GL, Archer JS, Heavin SB, Mandelstam SA, et al. CHD2 myoclonic encephalopathy is frequently associated with self‐induced seizures. Neurology. 2015;84:951‐958. DOI: 10.1212/WNL.0000000000001305 - DOI - PMC - PubMed

[8] Thomas RH, Zhang LM, Carvill GL, Archer JS, Heavin SB, Mandelstam SA, et al. CHD2 myoclonic encephalopathy is frequently associated with self‐induced seizures. Neurology. 2015;84:951‐958. DOI: 10.1212/WNL.0000000000001305 - DOI - PMC - PubMed

[9] De Maria B, Balestrini S, Mei D, Melani F, Pellacani S, Pisano T, et al. Expanding the genetic and phenotypic spectrum of CHD2‐related disease: from early neurodevelopmental disorders to adult‐onset epilepsy. Am J Med Genet A. 2022;188:522‐533. DOI: 10.1002/ajmg.a.62548 - DOI - PubMed

[10] De Maria B, Balestrini S, Mei D, Melani F, Pellacani S, Pisano T, et al. Expanding the genetic and phenotypic spectrum of CHD2‐related disease: from early neurodevelopmental disorders to adult‐onset epilepsy. Am J Med Genet A. 2022;188:522‐533. DOI: 10.1002/ajmg.a.62548 - DOI - PubMed

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The neurodevelopmental spectrum seen with CHD2 variants

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The neurodevelopmental spectrum seen with CHD2 variants

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