The neurodevelopmental spectrum seen with variants.
作者信息
Willison Alice G, Thomas Rhys H
机构信息
Faculty of Medical Sciences Translational and Clinical Research Institute Newcastle University Newcastle UK.
Royal Victoria Infirmary Newcastle Upon Tyne NHS Foundation Trust Newcastle UK.
出版信息
Pediatr Investig. 2022 Apr 26;6(2):147-148. doi: 10.1002/ped4.12323. eCollection 2022 Jun.
Abstract
摘要
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Clinical analysis of gene mutations in pediatric patients with epilepsy.小儿癫痫患者基因突变的临床分析
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2
A Novel Variant of the Gene Associated With Developmental Delay and Myoclonic Epilepsy.与发育迟缓及肌阵挛性癫痫相关基因的一种新型变体
Front Genet. 2022 Feb 11;13:761178. doi: 10.3389/fgene.2022.761178. eCollection 2022.
3
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.扩展 CHD2 相关疾病的遗传和表型谱：从早期神经发育障碍到成年期癫痫。
Am J Med Genet A. 2022 Feb;188(2):522-533. doi: 10.1002/ajmg.a.62548. Epub 2021 Oct 29.
4
Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.在医学神经精神遗传学诊所中对青少年和成年人进行下一代基因面板检测。
Neurogenetics. 2021 Oct;22(4):313-322. doi: 10.1007/s10048-021-00664-3. Epub 2021 Aug 7.
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Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory.Chd2 对于神经回路发育和长期记忆是必要的。
Neuron. 2018 Dec 5;100(5):1180-1193.e6. doi: 10.1016/j.neuron.2018.09.049. Epub 2018 Oct 18.
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CHD2 variants are a risk factor for photosensitivity in epilepsy.冠心病2型变体是癫痫中光敏性的一个风险因素。
Brain. 2015 May;138(Pt 5):1198-207. doi: 10.1093/brain/awv052. Epub 2015 Mar 17.
7
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.CHD2型肌阵挛性脑病常与自我诱发的癫痫发作相关。
Neurology. 2015 Mar 3;84(9):951-8. doi: 10.1212/WNL.0000000000001305. Epub 2015 Feb 11.
8
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.CHD2 杂合性不足与发育迟缓、智力残疾、癫痫和神经行为问题有关。
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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.在癫痫性脑病中进行靶向重测序鉴定出 CHD2 和 SYNGAP1 的新生突变。
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