婴儿痉挛症遗传学病因及诊疗的研究进展

doi:10.20047/j.issn1673-7210.2023.05.07

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Abstract Infantile spasms is a typical catastrophic epileptic encephalopathy, most of which are refractory epilepsy. Currently, the pathogenesis of infantile spasms is not fully clearly. In recent years, gene variants such as SCN2A, SCN8A, CDKL5, DEPDC5, STXBP1, GABRA, COL4A1/COL4A2, and CASK etc. have been gradually confirmed to be related to infantile spasms. Due to the specificity of clinical phenotypes caused by different gene mutations, western medicine treatment selects different therapeutic drugs with different targets for different pathogenesis. Traditional Chinese medicine, based on the constitution and disease characteristics of children, can also have certain curative effects by treating according to syndrome differentiation. Therefore, this article reviews the etiology and diagnosis and treatment of infantile spasms gene-related genetics in order to identify relevant gene mutations at an early stage and improve the efficiency of clinical diagnosis and treatment.

Key words： Infantile spasms West syndrome Genes Epilepsy

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	NIE Lianghui WANG Shuai YANG Libin MA Rong CHEN Hanjiang RONG Ping

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NIE Lianghui WANG Shuai YANG Libin MA Rong CHEN Hanjiang RONG Ping. Research progress on genetic etiology and diagnosis and treatment of infantile spasms[J]. 中国医药导报, 2023, 20(5): 33-37.

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https://www.yiyaodaobao.com.cn/EN/10.20047/j.issn1673-7210.2023.05.07 OR https://www.yiyaodaobao.com.cn/EN/Y2023/V20/I5/33

[1] Wilmshurst JM，Ibekwe RC，O'Callaghan FJK. Epileptic spa- sms-175 years on：trying to teach an old dog new tricks [J]. Seizure，2017，44：81-86.
[2] D'Alonzo R，Rigante D，Mencaroni E，et al. West syndrome：a review and guide for paediatricians [J]. Clin Drug Investig，2018，38（2）：113-124.
[3] 何娟，戴园园.钠离子通道相关基因突变致儿童癫痫17例的临床特征及致病基因谱[J].安徽医药，2021，25（6）：1198-1203.
[4] Sanders SJ，Campbell AJ，Cottrell JR，et al. Progress in understanding and treating SCN2A-mediated disorders [J]. Trends Neurosci，2018，41（7）：442-456.
[5] 王潇颖.14例SCN2A基因突变相关癫痫患儿的表型和基因型分析[D].重庆：重庆医科大学，2021.
[6] Nakamura K，Kato M，Osaka H，et al. Clinical spectrum of SCN2A mutations expanding to ohtahara syndrome [J]. Neurology，2013，81：992-998.
[7] Wolff M，Johannesen KM，Hedrich UBS，et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders [J]. Brain，2017，140（5）：1316- 1336.
[8] Hedrich UBS，Lauxmann S，Lerche H. SCN2A channelopa- thies：mechanisms and models [J]. Epilepsia，2019，60（3）：S68-S76.
[9] 李鑫，李静洁，杜雅坤，等.电压依赖性钠通道α2亚基基因相关癫痫伴孤独症谱系障碍一例[J].中华神经科杂志，2021，54（10）：1041-1046.
[10] 王安琪.SCN2A基因介导的癫痫及其治疗研究进展[J].国际儿科学杂志，2020，47（7）：481-484.
[11] 姚春美，赵荣江，邓亚仙，等.SCN8A基因突变相关癫痫性脑病2例报告并文献复习[J].临床儿科杂志，2019， 37（6）：462-465.
[12] Rolvien T，Butscheidt S，Jeschke A，et al. Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy [J]. Bone，2017，103：136-143.
[13] Johannesen KM，Gardella E，Scheffer I，et al. Early mortality in SCN8A-related epilepsies [J]. Epilepsy Res，2018， 143：79-81.
[14] Gardella E，Marini C，Trivisano M，et al. The phenotype of SCN8A developmental and epileptic encephalopathy [J]. Neurology，2018，91（12）：e1112-e1124.
[15] Perucca P，Perucca E. Identifying mutations in epilepsy genes：impact on treatment selection [J]. Epilepsy Res，2019，152：18-30.
[16] Braakman HM，Verhoeven JS，Erasmus CE，et al. Phenytoin as a last-resort treatment in SCN8A encephalopathy [J]. Epilepsia Open，2017，2（3）：343-344.
[17] 林萌.SCN8A基因突变相关癫痫的临床特征及遗传学特点研究[D].福州：福建医科大学，2021.
[18] Demarest S，Olson HE，Parikh S，et al. Phenotypic characterization of CDKL5 deficiency syndrome [M]. London：CDKL5 Forum，2018.
[19] Bahi-Buisson N，Kaminska A，Boddaert N，et al. The three stages of epilepsy in patients with CDKL5 mutations [J]. Epilepsia，2008，49（6）：1027-1037.
[20] Mirzaa GM，Paciorkowski AR，Marsh ED，et al. CDKL5 and ARX mutations in males with early-onset epilepsy [J]. Pediatr Neurol，2013，48（5）：367-377.
[21] 钟忆，束晓梅.CDKL5基因新生变异致早发性癫痫脑病1例报告[J].临床儿科杂志，2020，38（11）：814-816.
[22] Kobayashi Y，Tohyama J，Takahashi Y，et al. Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants [J]. Brain Dev，2021，43（4）：505-514.
[23] Demarest ST，Olson HE，Moss A，et al. CDKL5 deficiency disorder：relationship between genotype，epilepsy，cortical visual impairment，and development [J]. Epilepsia，2019， 60（8）：1733-1742.
[24] Amin S，Majumdar A，Mallick AA，et al. Caregiver's perception of epilepsy treatment，quality of life and comorbidities in an international cohort of CDKL5 patients [J]. Hippokratia，2017，21（3）：130-135.
[25] Yuskaitis CJ，Jones BM，Wolfson RL，et al. A mouse model of DEPDC5-related epilepsy：neuronal loss of Depdc5 causes dysplastic and ectopic neurons，increased mTOR signaling，and seizure susceptibility [J]. Neurobiol Dis，2018， 111：91-101.
[26] De Fusco A，Cerullo MS，Marte A，et al. Acute knockdown of Depdc5 leads to synaptic defects in mTOR-related epileptogenesis [J]. Neurobiol Dis，2020，139：104822.
[27] Hughes J，Dawson R，Tea M，et al. Knockout of the epilepsy gene Dcpdc5 in mice causes severe embryonic dysmorphoiogy wilh hyperactivity of mTORCl signalling [J]. Sci Rep，2017，7（1）：12618.
[28] 龙绮婷，张玮，张翠荣，等.DEPDC5基因突变相关的癫痫综合征的诊治分析[J].癫痫与神经电生理学杂志，2021， 30（1）：17-24.
[29] 陈丽卿，刘艳.DEPDC5基因突变相关婴儿痉挛症3例报告及文献复习[J].临床儿科杂志，2019，37（9）：669-672， 681.
[30] Baldassari S，Picard F，Verbeek NE，et al. The landscape of epilepsy-related GATOR1 variants [J]. Genet Med，2019， 21（2）：398-408.
[31] 彭镜，彭盼，Kessi Miriam，等.541例婴儿痉挛症患儿的病因分析：一项队列研究[C]//.第七届CAAE脑电图与神经电生理大会会刊，2020：36-37.
[32] Orock A，Logan S，Deak F. Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome [J]. Mol Cell Neurosci，2018，88：33-42.
[33] Barcia G，Chemaly N，Gobin S，et al. Early epileptic encephalopathies associated with STXBP1 mutations：could we better delineate the phenotype? [J]. Eur J Med Genet，2014，57（1）：15-20.
[34] 张天誉.9例STXBP1相关脑病患儿的临床特点及基因检测分析[D].济南：山东大学，2020.
[35] Wang QH，Cao JJ，Wang YY，et al. Efficacy of levetiracetam in STXBP1 encephalopathy with different phenotypic and genetic spectra [J]. Seizure，2022，95：64-74.
[36] Bracamontes JR，Li P，Akk G，et al. A neurosteroid potentiation site can be moved among GABAA receptor subunits [J]. J Physiol，2012，590：5739-5747.
[37] Hernandez CC，XiangWei W，Hu N，et al. Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies [J]. Brain，2019，142（7）：1938-1954.
[38] Johannesen K，Marini C，Pfeffer S，et al. Phenotypic spectrum of GABRA1：from generalized epilepsies to severe epileptic encephalopathies [J]. Neurology，2016，87（11）：1140-1151.
[39] 陈汉江，张喜莲，马融.马融治疗婴儿痉挛症经验[J].中医杂志，2013，54（18）：1547-1549.
[40] 王星辰.婴儿痉挛症临床特征及中药干预观察[D].天津：天津中医药大学，2021.
[41] 钟向阳，李秋琼.婴儿痉挛症采用针药结合分型论治的临床研究[J].中国现代药物应用，2017，11（24）：126- 128.