<i>CHD2</i>基因變異致發育性癲癇性腦病一例_Journal of Epilepsy

Authors：

魏東 ¹ ,  薛紅 ² , 李若照 ²

1. ;
2. ;

Corresponding?author：

薛紅, Email: 1789366146@qq.com

Keywords：

CHD2基因; 癲癇; 發育性癲癇性腦病

DOI：

10.7507/2096-0247.202601005

Video：

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Citation： 魏東, 薛紅, 李若照. CHD2基因變異致發育性癲癇性腦病一例. Journal of Epilepsy, 2026, 12(2): 177-181. doi: 10.7507/2096-0247.202601005 Copy

1.	Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia, 2017, 58(4): 512-521.
2.	Zuberi SM, Wirrell E, Yozawitz E, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 2022, 63(6): 1349-1397.
3.	Woodage T, Basrai M A, Baxevanis A D, et al. Characterization of the CHD family of proteins. Proc Natl Acad Sci USA, 1997, 94(21): 11472-7.
4.	Veredice C, Bianco F, Contaldo I, et al. Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case. Epilepsia, 2009, 50(7): 1810-1815.
5.	陳嬌陽, 張月華, 張靜, 等. CHD2基因突變相關癲癇臨床表型譜研究(附18例報告). 中國實用兒科雜志, 2020, 35(4): 289-294,300.
6.	王麗君, 董燕, 李肖, 等. 2例CHD2基因突變相關癲癇臨床表型及遺傳學分析. 中華實用診斷與治療雜志, 2023, 37(4): 332-336.
7.	Lamar KMJ, Carvill GL. Chromatin remodeling proteins in epilepsy: lessons from chd2-associated epilepsy. Front Molec Neurosci, 2018, 11: 208.
8.	鄧小鹿, 何芳, 吳麗文, 等. CHD2基因突變導致Dravet綜合征1例病例報告. 中國循證兒科雜志, 2016, 11(6): 473-474.
9.	Suls A, Jaehn J A, Kecskés A, et al. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet, 2013, 93(5): 967-75.
10.	Galizia EC, Myers CT, Leu C, et al. CHD2 variants are a risk factor for photosensitivity in epilepsy. Brain, 2015, 138: 1198-1207.
11.	Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet, 2013, 7: 7-20.
12.	Rong M. Adult outcomes of pediatric-onset CHD2 and SYNGAP1-associated developmental and epileptic encephalopathies. University of Toronto (Canada), 2022.
13.	Padilla H, Vairo FPE, Wirrell EC, et al. CHD2-related epilepsy with eyelid myoclonia: Report of three cases. Epileptic Disord, 2025, 27(1): 90-95.
14.	Yoo AS, Crabtree GR. ATP-dependent chromatin remodeling in neural development. Curr Opin Neurobiol, 2009, 19(2): 120-126.
15.	Chen JY, Zhang J, Liu AJ, et al. CHD2-related epilepsy: novel mutations and new phenotypes. Dev Med Child Neurol, 2020, 62(5): 647-653.
16.	蔡永康, 溫鑫, 余韻, 等. 右頜面部多發Ⅰ型神經纖維瘤病1例及文獻回顧. 口腔疾病防治, 2025, 33(11): 968-978.
17.	Akamine S, Sagata N, Sakai Y, et al. Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2. Epilepsia Open, 2018, 3(1): 81-85.
18.	Bajpai R, Chen DA, Rada-iglesias A, et al. CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature, 2010, 463(7283): 958-U135.
19.	Williams RM, Taylor G, Ling ITC, et al. Chromatin remodeller Chd7 is developmentally regulated in the neural crest by tissue-specific transcription factors. Plos Biol, 2024, 22(10): e3002786.
20.	Lee M, Goodall J, Verastegui C, et al. Direct regulation of the microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2. J Biol Chem, 2000, 275(48): 37978-37983.

1. Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia, 2017, 58(4): 512-521.
2. Zuberi SM, Wirrell E, Yozawitz E, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 2022, 63(6): 1349-1397.
3. Woodage T, Basrai M A, Baxevanis A D, et al. Characterization of the CHD family of proteins. Proc Natl Acad Sci USA, 1997, 94(21): 11472-7.
4. Veredice C, Bianco F, Contaldo I, et al. Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case. Epilepsia, 2009, 50(7): 1810-1815.
5. 陳嬌陽, 張月華, 張靜, 等. CHD2基因突變相關癲癇臨床表型譜研究(附18例報告). 中國實用兒科雜志, 2020, 35(4): 289-294,300.
6. 王麗君, 董燕, 李肖, 等. 2例CHD2基因突變相關癲癇臨床表型及遺傳學分析. 中華實用診斷與治療雜志, 2023, 37(4): 332-336.
7. Lamar KMJ, Carvill GL. Chromatin remodeling proteins in epilepsy: lessons from chd2-associated epilepsy. Front Molec Neurosci, 2018, 11: 208.
8. 鄧小鹿, 何芳, 吳麗文, 等. CHD2基因突變導致Dravet綜合征1例病例報告. 中國循證兒科雜志, 2016, 11(6): 473-474.
9. Suls A, Jaehn J A, Kecskés A, et al. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet, 2013, 93(5): 967-75.
10. Galizia EC, Myers CT, Leu C, et al. CHD2 variants are a risk factor for photosensitivity in epilepsy. Brain, 2015, 138: 1198-1207.
11. Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet, 2013, 7: 7-20.
12. Rong M. Adult outcomes of pediatric-onset CHD2 and SYNGAP1-associated developmental and epileptic encephalopathies. University of Toronto (Canada), 2022.
13. Padilla H, Vairo FPE, Wirrell EC, et al. CHD2-related epilepsy with eyelid myoclonia: Report of three cases. Epileptic Disord, 2025, 27(1): 90-95.
14. Yoo AS, Crabtree GR. ATP-dependent chromatin remodeling in neural development. Curr Opin Neurobiol, 2009, 19(2): 120-126.
15. Chen JY, Zhang J, Liu AJ, et al. CHD2-related epilepsy: novel mutations and new phenotypes. Dev Med Child Neurol, 2020, 62(5): 647-653.
16. 蔡永康, 溫鑫, 余韻, 等. 右頜面部多發Ⅰ型神經纖維瘤病1例及文獻回顧. 口腔疾病防治, 2025, 33(11): 968-978.
17. Akamine S, Sagata N, Sakai Y, et al. Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2. Epilepsia Open, 2018, 3(1): 81-85.
18. Bajpai R, Chen DA, Rada-iglesias A, et al. CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature, 2010, 463(7283): 958-U135.
19. Williams RM, Taylor G, Ling ITC, et al. Chromatin remodeller Chd7 is developmentally regulated in the neural crest by tissue-specific transcription factors. Plos Biol, 2024, 22(10): e3002786.
20. Lee M, Goodall J, Verastegui C, et al. Direct regulation of the microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2. J Biol Chem, 2000, 275(48): 37978-37983.

Journal of Epilepsy

CHD2基因變異致發育性癲癇性腦病一例

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