《神圣的疾病：癫痫障碍的令人费解的遗传学》
The sacred disease: the puzzling genetics of epileptic disorders.
机构信息
Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
出版信息
Neuron. 2013 Oct 2;80(1):9-11. doi: 10.1016/j.neuron.2013.09.019.
Abstract
In the September 12, 2013 issue of Nature, the Epi4K Consortium (Allen et al., 2013) reported sequencing 264 patient trios with epileptic encephalopathies. The Consortium focused on genes exceptionally intolerant to sequence variations and found substantial interconnections with autism and intellectual disability gene networks.
摘要
在 2013 年 9 月 12 日的《自然》杂志上，Epi4K 联盟（Allen 等人，2013 年）报道了对 264 个癫痫性脑病患者三核苷酸重复序列进行测序的结果。该联盟专注于对序列变异特别不宽容的基因，并发现了与自闭症和智力障碍基因网络的实质性关联。
相似文献
1
The sacred disease: the puzzling genetics of epileptic disorders.《神圣的疾病：癫痫障碍的令人费解的遗传学》
Neuron. 2013 Oct 2;80(1):9-11. doi: 10.1016/j.neuron.2013.09.019.
2
De novo mutations in epileptic encephalopathies.癫痫性脑病中的从头突变。
Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.
3
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.包括DNM1在内的突触传递基因的新生突变会导致癫痫性脑病。
Am J Hum Genet. 2014 Oct 2;95(4):360-70. doi: 10.1016/j.ajhg.2014.08.013. Epub 2014 Sep 25.
4
Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.ARX 中的剪接变异导致一名智力残疾和婴儿期起病的发育性和癫痫性脑病男孩的 C 末端区域缺失。
Am J Med Genet A. 2019 Aug;179(8):1483-1490. doi: 10.1002/ajmg.a.61216. Epub 2019 May 30.
5
Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.发育性和癫痫性脑病及智力障碍的遗传趋同。
Dev Med Child Neurol. 2021 Dec;63(12):1441-1447. doi: 10.1111/dmcn.14989. Epub 2021 Jul 11.
6
The Role of Protocadherin 19 (PCDH19) in Neurodevelopment and in the Pathophysiology of Early Infantile Epileptic Encephalopathy-9 (EIEE9).原钙黏蛋白 19（PCDH19）在神经发育和早发性婴儿癫痫脑病-9（EIEE9）发病机制中的作用。
Dev Neurobiol. 2019 Jan;79(1):75-84. doi: 10.1002/dneu.22654. Epub 2019 Jan 18.
7
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.CDKL5基因突变会导致女性患者出现婴儿痉挛症、早发性癫痫和严重智力障碍。
J Med Genet. 2006 Sep;43(9):729-34. doi: 10.1136/jmg.2006.041467. Epub 2006 Apr 12.
8
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.FBXO28 导致伴有严重智力残疾的发育性和癫痫性脑病。
Epilepsia. 2021 Jan;62(1):e13-e21. doi: 10.1111/epi.16784. Epub 2020 Dec 6.
9
Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.UDP-葡萄糖-6-脱氢酶隐性神经发育障碍表型谱的扩展：伴有或不伴有癫痫性脑病的两种新描述。
Am J Med Genet A. 2024 Dec;194(12):e63820. doi: 10.1002/ajmg.a.63820. Epub 2024 Jul 12.
10
MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.MED13突变：一种伴有婴儿痉挛症的发育性和癫痫性脑病的新病因。
Seizure. 2022 Oct;101:211-217. doi: 10.1016/j.seizure.2022.09.002. Epub 2022 Sep 3.
引用本文的文献
1
Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.自闭症谱系障碍及共病脑部疾病的疾病相似性网络分析
Front Mol Neurosci. 2022 Aug 18;15:932305. doi: 10.3389/fnmol.2022.932305. eCollection 2022.
2
Resolving cellular and molecular diversity along the hippocampal anterior-to-posterior axis in humans.解析人类海马体前-后轴上的细胞和分子多样性。
Neuron. 2021 Jul 7;109(13):2091-2105.e6. doi: 10.1016/j.neuron.2021.05.003. Epub 2021 May 28.
3
Genetic basis of pediatric epilepsy syndromes.小儿癫痫综合征的遗传基础。
Exp Ther Med. 2017 May;13(5):2129-2133. doi: 10.3892/etm.2017.4267. Epub 2017 Mar 27.
4
Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.由Kv7.2和Kv7.3钾通道亚基电压传感器功能获得性突变引起的早发性癫痫性脑病。
J Neurosci. 2015 Mar 4;35(9):3782-93. doi: 10.1523/JNEUROSCI.4423-14.2015.
本文引用的文献
1
Genic intolerance to functional variation and the interpretation of personal genomes.遗传不耐受功能性变异与个人基因组解读
PLoS Genet. 2013;9(8):e1003709. doi: 10.1371/journal.pgen.1003709. Epub 2013 Aug 22.
2
De novo mutations in epileptic encephalopathies.癫痫性脑病中的从头突变。
Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.
3
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.TNK2 基因突变导致严重常染色体隐性遗传性婴儿期起病癫痫。
Ann Neurol. 2013 Sep;74(3):496-501. doi: 10.1002/ana.23934. Epub 2013 Sep 4.
4
Using whole-exome sequencing to identify inherited causes of autism.利用全外显子组测序鉴定自闭症的遗传病因。
Neuron. 2013 Jan 23;77(2):259-73. doi: 10.1016/j.neuron.2012.11.002.
5
Diagnostic exome sequencing in persons with severe intellectual disability.对严重智力障碍者进行外显子组诊断测序。
N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3.
6
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.与严重非综合征性散发性智力障碍相关的基因突变范围：外显子组测序研究。
Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27.
7
Rate of de novo mutations and the importance of father's age to disease risk.新突变率和父亲年龄对疾病风险的重要性。
Nature. 2012 Aug 23;488(7412):471-5. doi: 10.1038/nature11396.
8
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.PI3K-AKT3-mTOR 通路组件中的从头发生的体细胞突变导致偏侧巨脑畸形。
Nat Genet. 2012 Jun 24;44(8):941-5. doi: 10.1038/ng.2329.
9
De novo gene disruptions in children on the autistic spectrum.自闭症谱系儿童中的新生基因缺失。
Neuron. 2012 Apr 26;74(2):285-99. doi: 10.1016/j.neuron.2012.04.009.
10
Malformations of cortical development.皮质发育畸形。
Brain Pathol. 2012 May;22(3):380-401. doi: 10.1111/j.1750-3639.2012.00581.x.
Zotero 插件