发育性及癫痫性脑病的遗传学研究进展_Journal of Epilepsy

Authors：

童培 ¹ ,  刘艳 ²

1. ;
2. ;

Corresponding author：

刘艳, Email: lyan3022@163.com

Keywords：

癫痫; 脑病; 发育; 婴儿

DOI：

10.7507/2096-0247.202112014

Video：

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发育性及癫痫性脑病是一组疾病的总称，其持续频繁癫痫发作伴发作间期异常放电严重影响患儿大脑的发育和成熟，且抗癫痫药物难以控制其发作，可导致认知功能和运动发育落后。近来随着基因2代测序技术发展迅速，发现某些离子通道型基因发生突变可导致发育性及癫痫性脑病，对疾病的早期诊断及干预有重要作用。本文主要对发育性及癫痫性脑病相关离子通道类基因做一综述。

Citation： 童培, 刘艳. 发育性及癫痫性脑病的遗传学研究进展. Journal of Epilepsy, 2022, 8(4): 338-341. doi: 10.7507/2096-0247.202112014 Copy

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2.	苏艳, 赵世刚, 杨蕴天, 等. 癫痫病因及发病机制. 脑与神经疾病杂志, 2016, 24(4): 262-264.
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5.	Lim BC, Hwang H, Kim H, et al. Epilepsy phenotype associated with a chromosome 2q24. 3 deletion involving SCN1A: migrating partial seizures of infancy or atypical Dravet syndrome? Epilepsy Res, 2015, 109: 34-39.
6.	Wolff M, Johannesen KM, UBS H, et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain, 2017, 140(5): 1316-1336.
7.	Wang J, Gao H, Bao X, et al. SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. BMC Med Genet, 2017, 18(1): 104.
8.	Catterall WA, Kalume F, Oakley JC. NaV1. 1 channels and epilepsy. J Physiol, 2010, 588(11): 1849-1859.
9.	田小娟, 张月华, 杨小玲, 等. 547 例 Dravet 综合征患儿 SCN1A基因突变与遗传特点研究. 癫痫杂志, 2016, 2(1): 3-8.
10.	苗圃, 王健达, 郭雨帆等. SCN2A 基因突变导致大田原综合征 2 例报告及文献复习. 临床儿科杂志, 2019, 37(3): 223-227.
11.	Nakamura K, Kato M, Osaka H, et al. Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology, 2013, 81(11): 992-998.
12.	Liu Y, Schubert J, Sonnenberg L, et al. Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability. Brain, 2019, 142: 376-390.
13.	Wagnon JL, Mencacci NE, Barker BS, et al. Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. Hum Mutat, 2018, 39: 965-969.
14.	Wengert ER, Tronhjem CE, Wagnon JL, et al. Biallelic inherited SCN8A variants, a rare cause of SCN8A‐related developmental and epileptic encephalopat. Epilepsia, 2019, 60(1): 1-9.
15.	Pons L, Lesca G, Sanlaville D, et al. Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy. Epileptic Disord, 2018, 20(4): 289-294.
16.	Kearney JA. KCNA2-related epileptic encephalopathy. Pediatr Neurol Briefs, 2015, 29(4): 27.
17.	龚潘, 薛姣, 焦莶如, 等. KCNA2基因相关发育及癫痫性脑病患儿的基因型及表型特点. 中华儿科杂志, 2020, 58(1): 35-40.
18.	屈晓旋, 谢涵, 姜玉武. KCNQ2 基因相关癫痫: 一种谱系疾病. 中国医师杂志, 2017, 19(8): 1134-1138.
19.	Kato M, Yamagata T, Kubota M, et al. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia, 2013, 54(7): 1282-1287.
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23.	郎悦, 王小峰, 尹剑, 等. 离子通道与癫痫遗传学研究进展. 中华神经科杂志, 2018, 51(8): 642-648.
24.	Berdyyeva TK, Frady EP, Nassi JJ, et al. Direct imaging of hippocampal epileptiform calcium motifs following kainic acid administration in freely behaving mice. Front Neurosci, 2016, (10): 53.
25.	Helbig KL, Lauerer RJ, Bahr JC, et al. De novo pathogenic variants in CACNA1E caused developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias. Am J Hum Genet, 2019, 104(3): 562.
26.	Punetha J, Karaca E, Gezdirici A, et al. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. ANNALS of Clinical Translational Neurology, 2019, (5): 1-12.
27.	Jiang X, Praveen K, Nazzareno D, et al. Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathiesin the spectrum of Lennox-Gastaut syndrome. Epilepsia, 2019, (60): 1881-1894.
28.	胡春辉, 杨滢, 马洁卉, 等. CACNA1E基因突变相关发育性癫痫性脑病3例. 中华实用儿科临床杂志, 2020, 35(12): 931-934.
29.	Reinson K, Oiglane-Shlik E, Talvik I, et al. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. Am J Med Genet A, 2016, 170(8): 2173-2176.
30.	Qi Y, Mair N, Kummer KK, et al. Identification of Chloride Channels CLCN3 and CLCN5Mediating the Excitatory Cl^- Currents Activated by Sphingosine-1-Phosphate in Sensory Neurons. Front Mol Neurosci, 2018, 11: 33.
31.	贺海兰, 彭镜. 电压门控氯离子通道与癫痫研究进展. 中华实用儿科临床杂志, 2019, 34(24): 1911-1914.
32.	Peng J, Wang Y, He F, et al. Novel West syndrome candidate genes in a Chinese cohort. CNS Neurosci Ther, 2018, 24: (12).1196-1206.

1. Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsis: position paper of the ILAE commission for classification and terminology. Epilepsia, 2017, 58(4): 512-521.
2. 苏艳, 赵世刚, 杨蕴天, 等. 癫痫病因及发病机制. 脑与神经疾病杂志, 2016, 24(4): 262-264.
3. Thomas RH, Berkovic SF. The hidden genetics of epilepsy-aclinically important new paradigm. Nat Rev Neurol, 2014, 10(5): 283-292.
4. Olson HE, Kelly M, LaCoursiere CM, et al. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol, 2017, 81(3): 419-429.
5. Lim BC, Hwang H, Kim H, et al. Epilepsy phenotype associated with a chromosome 2q24. 3 deletion involving SCN1A: migrating partial seizures of infancy or atypical Dravet syndrome? Epilepsy Res, 2015, 109: 34-39.
6. Wolff M, Johannesen KM, UBS H, et al. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain, 2017, 140(5): 1316-1336.
7. Wang J, Gao H, Bao X, et al. SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. BMC Med Genet, 2017, 18(1): 104.
8. Catterall WA, Kalume F, Oakley JC. NaV1. 1 channels and epilepsy. J Physiol, 2010, 588(11): 1849-1859.
9. 田小娟, 张月华, 杨小玲, 等. 547 例 Dravet 综合征患儿 SCN1A基因突变与遗传特点研究. 癫痫杂志, 2016, 2(1): 3-8.
10. 苗圃, 王健达, 郭雨帆等. SCN2A 基因突变导致大田原综合征 2 例报告及文献复习. 临床儿科杂志, 2019, 37(3): 223-227.
11. Nakamura K, Kato M, Osaka H, et al. Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology, 2013, 81(11): 992-998.
12. Liu Y, Schubert J, Sonnenberg L, et al. Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability. Brain, 2019, 142: 376-390.
13. Wagnon JL, Mencacci NE, Barker BS, et al. Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. Hum Mutat, 2018, 39: 965-969.
14. Wengert ER, Tronhjem CE, Wagnon JL, et al. Biallelic inherited SCN8A variants, a rare cause of SCN8A‐related developmental and epileptic encephalopat. Epilepsia, 2019, 60(1): 1-9.
15. Pons L, Lesca G, Sanlaville D, et al. Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy. Epileptic Disord, 2018, 20(4): 289-294.
16. Kearney JA. KCNA2-related epileptic encephalopathy. Pediatr Neurol Briefs, 2015, 29(4): 27.
17. 龚潘, 薛姣, 焦莶如, 等. KCNA2基因相关发育及癫痫性脑病患儿的基因型及表型特点. 中华儿科杂志, 2020, 58(1): 35-40.
18. 屈晓旋, 谢涵, 姜玉武. KCNQ2 基因相关癫痫: 一种谱系疾病. 中国医师杂志, 2017, 19(8): 1134-1138.
19. Kato M, Yamagata T, Kubota M, et al. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia, 2013, 54(7): 1282-1287.
20. Weckhuysen S, Mandelstam S, Suls A, et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephaopathy. Ann Neurol, 2012, 71(1): 15-25.
21. Weckhuysen S, lvanovic V, Hendrickx R, et al. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17patients. Neurology, 2013, 81(19): 1697-1703.
22. Lim CX, Ricos MG, Dibbens LM, et al. KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. J Med Genet, 2016, 53(4): 217-225.
23. 郎悦, 王小峰, 尹剑, 等. 离子通道与癫痫遗传学研究进展. 中华神经科杂志, 2018, 51(8): 642-648.
24. Berdyyeva TK, Frady EP, Nassi JJ, et al. Direct imaging of hippocampal epileptiform calcium motifs following kainic acid administration in freely behaving mice. Front Neurosci, 2016, (10): 53.
25. Helbig KL, Lauerer RJ, Bahr JC, et al. De novo pathogenic variants in CACNA1E caused developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias. Am J Hum Genet, 2019, 104(3): 562.
26. Punetha J, Karaca E, Gezdirici A, et al. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. ANNALS of Clinical Translational Neurology, 2019, (5): 1-12.
27. Jiang X, Praveen K, Nazzareno D, et al. Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathiesin the spectrum of Lennox-Gastaut syndrome. Epilepsia, 2019, (60): 1881-1894.
28. 胡春辉, 杨滢, 马洁卉, 等. CACNA1E基因突变相关发育性癫痫性脑病3例. 中华实用儿科临床杂志, 2020, 35(12): 931-934.
29. Reinson K, Oiglane-Shlik E, Talvik I, et al. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. Am J Med Genet A, 2016, 170(8): 2173-2176.
30. Qi Y, Mair N, Kummer KK, et al. Identification of Chloride Channels CLCN3 and CLCN5Mediating the Excitatory Cl^- Currents Activated by Sphingosine-1-Phosphate in Sensory Neurons. Front Mol Neurosci, 2018, 11: 33.
31. 贺海兰, 彭镜. 电压门控氯离子通道与癫痫研究进展. 中华实用儿科临床杂志, 2019, 34(24): 1911-1914.
32. Peng J, Wang Y, He F, et al. Novel West syndrome candidate genes in a Chinese cohort. CNS Neurosci Ther, 2018, 24: (12).1196-1206.

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