儿童癫痫综合征遗传研究进展_Journal of Epilepsy

Authors：

陈叶红 ^1,2 , 高在芬 ² , 韩涛 ² , 臧轲君 ² , 吴怀宽 ² , 苏永鑫 ² ,  刘学伍 ²

1. ;
2. ;

Corresponding author：

刘学伍, Email: snlxw1966@163.com

Keywords：

儿童癫痫综合征; 基因; 离子通道

DOI：

10.7507/2096-0247.20170064

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

癫痫是一种多基因遗传的复杂疾病，其表型特征涉及多个基因序列和表达的改变，目前已明确与人类癫痫相关的基因有500多个，所涉及的癫痫种类众多，表型各异。新一代测序技术极大地增加了新的癫痫致病基因的发现速度，使临床能够确定越来越多患者的癫痫遗传病因，并更好地理解该疾病潜在的病理生理机制。儿童癫痫综合征具有特殊的临床及电生理特征，常具有明显的遗传背景，特定年龄段起病，因此在癫痫相关遗传研究中也有着最为丰硕的收获。文章就遗传性全面强直-阵挛发作性癫痫、全面性癫痫伴热性惊厥附加症、儿童失神癫痫、青少年肌阵挛癫痫等儿童癫痫综合征相关的致病基因，特别是电压门控离子通道的亚基，以及配体门控离子通道的亚基等最新研究进展进行总结。

Citation： 陈叶红, 高在芬, 韩涛, 臧轲君, 吴怀宽, 苏永鑫, 刘学伍. 儿童癫痫综合征遗传研究进展. Journal of Epilepsy, 2017, 3(5): 410-413. doi: 10.7507/2096-0247.20170064 Copy

1.	Michelucci R, Pasini E, Riguzzi P, et al. Genetics of epilepsy and relevance to current practice.Curr Neurol Neurosci Rep, 2012, 12(4): 445-455.
2.	Guerrini R, Marini C, Mantegazza M.Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models.Neurotherapeutics, 2014, 11(2): 269-285.
3.	Yang Y, Wu J, Liu H, et al. Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis Ⅱ alpha/beta using targeted next-generation sequencing.Genomics, 2013, 102(3): 169-173.
4.	戴毅, 姚凤霞, 魏晓明, 等.基因芯片捕获及高通量测序在迪谢内型肌营养不良基因诊断中的初步研究.中华神经科杂志, 2013, 46(3): 188-192.
5.	Barkovich AJ, Guerrini R, Kuzniecky RI, et al. A developmental and genetic classification for malformations of cortical development: update 2012.Neurology, 2014, 13(7): 710.
6.	Sandberg R, Yasuda R, Pankratz DG, et al.Regional and strain-specific gene expression mapping in the adult mouse brain.Proc Natl Acad Sci USA, 2000, 97(20): 11038-11043.
7.	Ingo Helbig.Genetic causes of feneralized epilepsies.semin.Neurol, 2015, 35(3): 288-292.
8.	Kamiya K, Kaneda M, Sugawara T, et al.A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.Journal of Neuroscience, 2004, 24(11): 2690-269.
9.	Rhodes TH, Lossin C, Vanoye CG, et al.Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.Proc Natl Acad Sci USA, 2004, 101(30): 11147-111522.
10.	Zhang X, Ling J, Barcia G, et al. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.American Journal of Human Genetics, 2014, 94(4): 547-558.
11.	Liao WP, Shi YW, Long YS, et al. Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.Epilepsia, 2010, 51(9): 1669-1678.
12.	Scheffer IE, Harkin LA, Grinten BE, et al. Temporal lobe epilepsy and GEFS+ Phenotypes associated with SCNlB mutations.Brain, 2007, 130(1): 100-109.
13.	Mukherjee D, Mukherjee S, Niyogi P, et al. Dravet syndrome with SCN1B gene mutation: A rare entity.Neurol India.2017, 65(4): 801-803.
14.	Usluer S, Kayserili MA, Eken AG, et al.Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).European Journal of Paediatric Neurology, 2017, 21(5): 773-782.
15.	Guilhoto LM.Absence epilepsy: Continuum of clinical presentation and epigenetics Seizure, 2017, 44: 53-57.
16.	Steinlein O, Sander T, Stoodt J, et al. Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies.American Journal of Medical Genetics, 1997, 74(4): 445-449.
17.	Bond C, Laforge KS, Tian M, et al.Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity: possible implications for opiate addiction.Proc Natl Acad Sci USA, 1998, 95(16): 9608-9613.
18.	Barratt C, Lai T, Nashef L, et al.No association of single nucleotide polymorphisms in the micro-opioid receptor subunit gene with idiopathic generalized epilepsy.Epilepsia, 2006, 47(10): 1728-1731.
19.	Steffens M, Leu C, Ruppert AK, et al. Genome-Wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.Human Molecular Genetics, 2012, 21(24): 5359-5372.
20.	Jiang Y, Zhang Y, Zhang P, et al. NIPA2 mutations are correlative with childhood absence epilepsy in the Han Chinese population.Hum Genet, 2014, 133(5): 675-676.
21.	Gambardella A, Labate A.The role of calcium channel mutations in human epilepsy.Prog Brain Res, 2014, 213: 87-96.
22.	Janz D, Christian W.Impulsivepetit mal.J Neurol, 1957, 176: 344-386.
23.	Camfield CS, Striano P, Camfield PR, et al. Epidemiology of juvenile myoclonic epilepsy.Epilepsy & Behavior, 2013, 28(7): 15-17.
24.	Kapoor A, Satishchandra P, Ratnapriya R, et al. An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.Annals of Neurology, 2008, 64(2): 158-167.
25.	Medina MT, Suzuki T, Alonso ME, et al. Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.Neurology, 2008, 70(2): 2137-2144.
26.	Bpd S, Crm M, Tebs M, et al. Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.Plos One, 2017, 12(6): e0179629.
27.	Pal DK, Evgrafov OV, Tabares P, et al. BRD2(RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy.American Journal of Human Genetics, 2003, 73(2): 261.
28.	Greenberg DA, Cayanis E, Strug L, et al. Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy.American Journal of Human Genetics, 2005, 76(1): 139-146.
29.	Cossette P.Channelopathies and juvenile myoclonic epilepsy.Epilepsia, 2010, 51(Suppl1): 30-32.
30.	Cossette P, Lortie A, Vanasse M, et al. Autosomal dominant juvenile myoclonic epilepsy and GABRA1.Advances in Neurology, 2005, 95(95): 255-264.

1. Michelucci R, Pasini E, Riguzzi P, et al. Genetics of epilepsy and relevance to current practice.Curr Neurol Neurosci Rep, 2012, 12(4): 445-455.
2. Guerrini R, Marini C, Mantegazza M.Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models.Neurotherapeutics, 2014, 11(2): 269-285.
3. Yang Y, Wu J, Liu H, et al. Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis Ⅱ alpha/beta using targeted next-generation sequencing.Genomics, 2013, 102(3): 169-173.
4. 戴毅, 姚凤霞, 魏晓明, 等.基因芯片捕获及高通量测序在迪谢内型肌营养不良基因诊断中的初步研究.中华神经科杂志, 2013, 46(3): 188-192.
5. Barkovich AJ, Guerrini R, Kuzniecky RI, et al. A developmental and genetic classification for malformations of cortical development: update 2012.Neurology, 2014, 13(7): 710.
6. Sandberg R, Yasuda R, Pankratz DG, et al.Regional and strain-specific gene expression mapping in the adult mouse brain.Proc Natl Acad Sci USA, 2000, 97(20): 11038-11043.
7. Ingo Helbig.Genetic causes of feneralized epilepsies.semin.Neurol, 2015, 35(3): 288-292.
8. Kamiya K, Kaneda M, Sugawara T, et al.A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.Journal of Neuroscience, 2004, 24(11): 2690-269.
9. Rhodes TH, Lossin C, Vanoye CG, et al.Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.Proc Natl Acad Sci USA, 2004, 101(30): 11147-111522.
10. Zhang X, Ling J, Barcia G, et al. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.American Journal of Human Genetics, 2014, 94(4): 547-558.
11. Liao WP, Shi YW, Long YS, et al. Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.Epilepsia, 2010, 51(9): 1669-1678.
12. Scheffer IE, Harkin LA, Grinten BE, et al. Temporal lobe epilepsy and GEFS+ Phenotypes associated with SCNlB mutations.Brain, 2007, 130(1): 100-109.
13. Mukherjee D, Mukherjee S, Niyogi P, et al. Dravet syndrome with SCN1B gene mutation: A rare entity.Neurol India.2017, 65(4): 801-803.
14. Usluer S, Kayserili MA, Eken AG, et al.Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).European Journal of Paediatric Neurology, 2017, 21(5): 773-782.
15. Guilhoto LM.Absence epilepsy: Continuum of clinical presentation and epigenetics Seizure, 2017, 44: 53-57.
16. Steinlein O, Sander T, Stoodt J, et al. Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies.American Journal of Medical Genetics, 1997, 74(4): 445-449.
17. Bond C, Laforge KS, Tian M, et al.Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity: possible implications for opiate addiction.Proc Natl Acad Sci USA, 1998, 95(16): 9608-9613.
18. Barratt C, Lai T, Nashef L, et al.No association of single nucleotide polymorphisms in the micro-opioid receptor subunit gene with idiopathic generalized epilepsy.Epilepsia, 2006, 47(10): 1728-1731.
19. Steffens M, Leu C, Ruppert AK, et al. Genome-Wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.Human Molecular Genetics, 2012, 21(24): 5359-5372.
20. Jiang Y, Zhang Y, Zhang P, et al. NIPA2 mutations are correlative with childhood absence epilepsy in the Han Chinese population.Hum Genet, 2014, 133(5): 675-676.
21. Gambardella A, Labate A.The role of calcium channel mutations in human epilepsy.Prog Brain Res, 2014, 213: 87-96.
22. Janz D, Christian W.Impulsivepetit mal.J Neurol, 1957, 176: 344-386.
23. Camfield CS, Striano P, Camfield PR, et al. Epidemiology of juvenile myoclonic epilepsy.Epilepsy & Behavior, 2013, 28(7): 15-17.
24. Kapoor A, Satishchandra P, Ratnapriya R, et al. An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.Annals of Neurology, 2008, 64(2): 158-167.
25. Medina MT, Suzuki T, Alonso ME, et al. Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.Neurology, 2008, 70(2): 2137-2144.
26. Bpd S, Crm M, Tebs M, et al. Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.Plos One, 2017, 12(6): e0179629.
27. Pal DK, Evgrafov OV, Tabares P, et al. BRD2(RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy.American Journal of Human Genetics, 2003, 73(2): 261.
28. Greenberg DA, Cayanis E, Strug L, et al. Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy.American Journal of Human Genetics, 2005, 76(1): 139-146.
29. Cossette P.Channelopathies and juvenile myoclonic epilepsy.Epilepsia, 2010, 51(Suppl1): 30-32.
30. Cossette P, Lortie A, Vanasse M, et al. Autosomal dominant juvenile myoclonic epilepsy and GABRA1.Advances in Neurology, 2005, 95(95): 255-264.

Previous Article
双侧颞叶癫痫的外科治疗策略
Next Article
刺激诱发出的脑电异常对重症患者脑功能的临床意义

Journal of Epilepsy

儿童癫痫综合征遗传研究进展

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Next Article

Format

Content