發育性及癲癇性腦病的遺傳學研究進展_Journal of Epilepsy

Authors：

童培 ¹ ,  劉艷 ²

1. ;
2. ;

Corresponding?author：

劉艷, Email: lyan3022@163.com

Keywords：

癲癇; 腦病; 發育; 嬰兒

DOI：

10.7507/2096-0247.202112014

Video：

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發育性及癲癇性腦病是一組疾病的總稱，其持續頻繁癲癇發作伴發作間期異常放電嚴重影響患兒大腦的發育和成熟，且抗癲癇藥物難以控制其發作，可導致認知功能和運動發育落后。近來隨著基因2代測序技術發展迅速，發現某些離子通道型基因發生突變可導致發育性及癲癇性腦病，對疾病的早期診斷及干預有重要作用。本文主要對發育性及癲癇性腦病相關離子通道類基因做一綜述。

Citation： 童培, 劉艷. 發育性及癲癇性腦病的遺傳學研究進展. Journal of Epilepsy, 2022, 8(4): 338-341. doi: 10.7507/2096-0247.202112014 Copy

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.	蘇艷, 趙世剛, 楊蘊天, 等. 癲癇病因及發病機制. 腦與神經疾病雜志, 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, 張月華, 楊小玲, 等. 547 例 Dravet 綜合征患兒 SCN1A基因突變與遺傳特點研究. 癲癇雜志, 2016, 2(1): 3-8.
10.	苗圃, 王健達, 郭雨帆等. SCN2A 基因突變導致大田原綜合征 2 例報告及文獻復習. 臨床兒科雜志, 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.	龔潘, 薛姣, 焦薟如, 等. KCNA2基因相關發育及癲癇性腦病患兒的基因型及表型特點. 中華兒科雜志, 2020, 58(1): 35-40.
18.	屈曉旋, 謝涵, 姜玉武. KCNQ2 基因相關癲癇: 一種譜系疾病. 中國醫師雜志, 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.	郎悅, 王小峰, 尹劍, 等. 離子通道與癲癇遺傳學研究進展. 中華神經科雜志, 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.	胡春輝, 楊瀅, 馬潔卉, 等. CACNA1E基因突變相關發育性癲癇性腦病3例. 中華實用兒科臨床雜志, 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.	賀海蘭, 彭鏡. 電壓門控氯離子通道與癲癇研究進展. 中華實用兒科臨床雜志, 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. 蘇艷, 趙世剛, 楊蘊天, 等. 癲癇病因及發病機制. 腦與神經疾病雜志, 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, 張月華, 楊小玲, 等. 547 例 Dravet 綜合征患兒 SCN1A基因突變與遺傳特點研究. 癲癇雜志, 2016, 2(1): 3-8.
10. 苗圃, 王健達, 郭雨帆等. SCN2A 基因突變導致大田原綜合征 2 例報告及文獻復習. 臨床兒科雜志, 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. 龔潘, 薛姣, 焦薟如, 等. KCNA2基因相關發育及癲癇性腦病患兒的基因型及表型特點. 中華兒科雜志, 2020, 58(1): 35-40.
18. 屈曉旋, 謝涵, 姜玉武. KCNQ2 基因相關癲癇: 一種譜系疾病. 中國醫師雜志, 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. 郎悅, 王小峰, 尹劍, 等. 離子通道與癲癇遺傳學研究進展. 中華神經科雜志, 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. 胡春輝, 楊瀅, 馬潔卉, 等. CACNA1E基因突變相關發育性癲癇性腦病3例. 中華實用兒科臨床雜志, 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. 賀海蘭, 彭鏡. 電壓門控氯離子通道與癲癇研究進展. 中華實用兒科臨床雜志, 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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發育性及癲癇性腦病的遺傳學研究進展

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