特发性全面性癫痫易感基因的研究_Journal of Epilepsy

Authors：

吴凌超 , 肖波 ,  龙莉莉

中南大学湘雅医院神经内科(长沙 410013);

Corresponding author：

龙莉莉, Email: 10353654@qq.com

Keywords：

癫痫; 特发性; 全面性; 致病基因; 突变; 发病机制

DOI：

10.7507/2096-0247.20170007

Video：

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随着生物信息学的飞速发展, 特发性全面性癫痫(Genetic generalized epilepsy, GGE)发病被证实与遗传因素密切相关, 越来越多的易感基因被发现, 同时其发病机制亦陆续被深入研究。大部分的突变基因为编码离子通道蛋白的基因, 但离子通道基因突变仅能解释GGE的少数家系或散发病例, 故对GGE的易感基因与发病机制进行阐明, 有利于GGE的后续遗传学研究。

Citation： 吴凌超, 肖波, 龙莉莉. 特发性全面性癫痫易感基因的研究. Journal of Epilepsy, 2017, 3(1): 44-49. doi: 10.7507/2096-0247.20170007 Copy

1.	Hesdonefer DC, Logroscino G, Benn EK, et al.Estimating risk for developing epilepsy:a population-based study in rochester, Minnesota.Neurology, 2011, 76(1):23-27.
2.	Jallon P, Latour P. Epidemiology of idiopathic generalized epilepsies. Epilepsia, 2005, 46(7):10-14.
3.	Helbig I, Scheffer IE, Mulley JC, et al.Navigating the channels and beyond:Unravelling the genetics of the epilepsies.Lancet, 2008, 7(3):231-245.
4.	Leppert M. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature, 1989, 337(5):647-648.
5.	Lewis TB. Genetic heterogeneity in benign familial neonatal convulsions:identification of a new locus on chromosome 8q. Am J Hum Genet, 1993, 53(2):670-675.
6.	Cooper EC, Jan LY. M-channels:neurological diseases, neuromodulation and drug development. Arch Neurol, 2003, 60(3):496-500.
7.	Vanmolkot KR, Kors EE, Hottenga JJ, et al.Novei mutations in the Na⁺.K⁺-ATPase pump gene ATPI A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.Ann Neurol, 2003, 54(3):360-366.
8.	T Inui. Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations. Brain & Development, 2016, 38(6):520-524.
9.	Helbig I, Scheffer IE, Mulley JC, et al.Navigating the channels and beyond:unravelling the genetics of the epilepsies.Lancet Neurol, 2008, 7(3):231-245.
10.	Fukata Y, Lovero KL, 1wanaga T, et al.Disruption of LGlllinked synaptic complex causes abno/Tflal synaptic transmission and epilepsy.Proc Natl Acad Sci USA, 2010, 107(8):3799-3804.
11.	Peloquin JB, losravani H, Barr W, et al.Functional analysis of Ca3.2 T.type calcium channel mutations linked to childhood absence epilepsy.Epilepsia, 2006, 47(3):655-658.
12.	Maljevie S, Krampfl K, Cobilanschi J, et al.A mutation in the GABA (A) receptor alpha (1)-subunit is associated with absenee epilepsy.Ann Neuro, 2008, 59(6):983-987.
13.	Gurba KN, Hemandez CC, Hu N, et al.The GABRB3 mutation.G32R, associated with childhood absence epilepsy, alters al 131, 2L GABAA receptor expression and channel gating.J Biol Chem, 2012, 287(15):12083-12097.
14.	KIeefuss Lie A, Friedl W, Cichon S, et al.CLCN2 variants in idiopathic generalized epilepsy.Nat Genet, 2009, 41(9):954-955.
15.	Muhle H, Helbig I, Frøslev TG, et al. The role of SLC2A1 in early onset and childhood absence epilepsies.Epilepsy Research, 2013, 105(2):229-233.
16.	Andermann F, Berkovic S. Idiopathic generalized epilepsy with generalized and other seizures in adolescence. Epilepsia, 2001, 42(1):317-320.
17.	Bianchi A, Viaggi S, Chiossi E. Lice episcreen group. Family study of epilepsy in first degree relatives:data from the Italian episcreen study. Seizure, 2003, 12(7):203-210.
18.	Baulac S, Huberfeld G, Gourfinkel-An I, et al. First evidence of GABAA receptor dysfunction in epilepsy:a mutation in the g2-subunit gene. Nat Genet, 2001, 28(7):46-48.
19.	Wallace RH, Marini C, Petrou S, et al. Mutant GABAA receptor g2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet, 2001, 28(4):178-183.
20.	Suzuki T, Delgado-Escueta AV, Aguan K, et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet, 2004, 36(7):843-849.
21.	Gallagher MJ, Song L, Arain F, et al. The juvenile myoclonic epilepsy GABAA receptor a1 subunit mutation A322D produces asymmetrical, subunit position-dependent reduction of heterozygous receptor currents and a1 subunit protein expression. J Neurosci, 2004, 24(6):5570-5578.
22.	Pal DK, Evgrafov OV, Tabares P, et al. BRD2(RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet, 2003, 73(2):261-270.
23.	Haug K, Warnstedt M, Alekov AK, et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet, 2003, 33(7):527-532.
24.	Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS? 2. Nat Genet, 2000, 24(4):343-345.
25.	Wallace RH, Wang DW, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Nap-channel beta1 subunit gene SCN1B. Nat Genet, 1998, 19(4):366-370.
26.	Wallace RH, Scheffer IE, Barnett S, et al. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet, 2001, 68(4):859-865.
27.	Harkin LA, Bowser DN, Dibbens LM, et al. Truncation of the GABA (A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet, 2002, 70(2):530-536.
28.	Baulac S, Huberfeld G, Gourfinkel-An I, et al. First genetic evidence of GABA (A) receptor dysfunction in epilepsy:a mutation in the gamma2-subunit gene. Nat Genet, 2001, 28(1):46-48.
29.	Wallace RH, Marini C, Petrou S, et al. Mutant GABA (A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet, 2001, 28(1):49-52.
30.	Inoue Y, Zifkin B. Praxis induction and thinking induction:one or two mechanisms? A controversy. In:Wolf P, Inoue Y, Zifkin B, editors. Reflex epilepsies. Current problems in epilepsy series, vol 19. Paris:John Libbey Eurotext, 2004:41-55.
31.	Casaubon L, Pohlmann-Eden B, Khosravani H, et al. Video-EEG evidence of lateralized clinical features in primary generalized epilepsy with tonic-clonic seizures. Epileptic Disord, 2003, 5(2):149-156.
32.	Panayiotopoulos CP, Obeid T, Tahan AR. Juvenile myoclonic epilepsy:a 5-year prospective study. Epilepsia, 1994, 35(4):285-296.
33.	Aliberti V, Grunewald RA, Panayiotopoulos CP, et al. Focal electroencephalographic abnormalities in juvenile myoclonic epilepsy. Epilepsia, 1994, 35(3):297-301.
34.	Rosati A, Agha Khani Y, Dubeau F, et al. The intractable idiopathic generalized epilepsies. Epilepsia, 2002, 43(Suppl 7):150.
35.	Wolf P. Regional manifestation of idiopathic epilepsy. Introduction. In:Wolf P, editor. Epileptic seizures and syndromes. London:John Libbey, 1994:265-267.
36.	Huang Haug K, Hallmann K, Rebstock J, et al. The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy. Epilepsy Res, 2001, 47(2):243-246.
37.	Anna Volzone. Lack of evidence for association between D2S124 and D2S111 polymorphisms of the SCN2A gene and idiopathic generalized epilepsy with generalized tonic-clonic seizures. Journal of Child Neurology, 2007, 22(7):907-910.

1. Hesdonefer DC, Logroscino G, Benn EK, et al.Estimating risk for developing epilepsy:a population-based study in rochester, Minnesota.Neurology, 2011, 76(1):23-27.
2. Jallon P, Latour P. Epidemiology of idiopathic generalized epilepsies. Epilepsia, 2005, 46(7):10-14.
3. Helbig I, Scheffer IE, Mulley JC, et al.Navigating the channels and beyond:Unravelling the genetics of the epilepsies.Lancet, 2008, 7(3):231-245.
4. Leppert M. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature, 1989, 337(5):647-648.
5. Lewis TB. Genetic heterogeneity in benign familial neonatal convulsions:identification of a new locus on chromosome 8q. Am J Hum Genet, 1993, 53(2):670-675.
6. Cooper EC, Jan LY. M-channels:neurological diseases, neuromodulation and drug development. Arch Neurol, 2003, 60(3):496-500.
7. Vanmolkot KR, Kors EE, Hottenga JJ, et al.Novei mutations in the Na⁺.K⁺-ATPase pump gene ATPI A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.Ann Neurol, 2003, 54(3):360-366.
8. T Inui. Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations. Brain & Development, 2016, 38(6):520-524.
9. Helbig I, Scheffer IE, Mulley JC, et al.Navigating the channels and beyond:unravelling the genetics of the epilepsies.Lancet Neurol, 2008, 7(3):231-245.
10. Fukata Y, Lovero KL, 1wanaga T, et al.Disruption of LGlllinked synaptic complex causes abno/Tflal synaptic transmission and epilepsy.Proc Natl Acad Sci USA, 2010, 107(8):3799-3804.
11. Peloquin JB, losravani H, Barr W, et al.Functional analysis of Ca3.2 T.type calcium channel mutations linked to childhood absence epilepsy.Epilepsia, 2006, 47(3):655-658.
12. Maljevie S, Krampfl K, Cobilanschi J, et al.A mutation in the GABA (A) receptor alpha (1)-subunit is associated with absenee epilepsy.Ann Neuro, 2008, 59(6):983-987.
13. Gurba KN, Hemandez CC, Hu N, et al.The GABRB3 mutation.G32R, associated with childhood absence epilepsy, alters al 131, 2L GABAA receptor expression and channel gating.J Biol Chem, 2012, 287(15):12083-12097.
14. KIeefuss Lie A, Friedl W, Cichon S, et al.CLCN2 variants in idiopathic generalized epilepsy.Nat Genet, 2009, 41(9):954-955.
15. Muhle H, Helbig I, Frøslev TG, et al. The role of SLC2A1 in early onset and childhood absence epilepsies.Epilepsy Research, 2013, 105(2):229-233.
16. Andermann F, Berkovic S. Idiopathic generalized epilepsy with generalized and other seizures in adolescence. Epilepsia, 2001, 42(1):317-320.
17. Bianchi A, Viaggi S, Chiossi E. Lice episcreen group. Family study of epilepsy in first degree relatives:data from the Italian episcreen study. Seizure, 2003, 12(7):203-210.
18. Baulac S, Huberfeld G, Gourfinkel-An I, et al. First evidence of GABAA receptor dysfunction in epilepsy:a mutation in the g2-subunit gene. Nat Genet, 2001, 28(7):46-48.
19. Wallace RH, Marini C, Petrou S, et al. Mutant GABAA receptor g2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet, 2001, 28(4):178-183.
20. Suzuki T, Delgado-Escueta AV, Aguan K, et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet, 2004, 36(7):843-849.
21. Gallagher MJ, Song L, Arain F, et al. The juvenile myoclonic epilepsy GABAA receptor a1 subunit mutation A322D produces asymmetrical, subunit position-dependent reduction of heterozygous receptor currents and a1 subunit protein expression. J Neurosci, 2004, 24(6):5570-5578.
22. Pal DK, Evgrafov OV, Tabares P, et al. BRD2(RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet, 2003, 73(2):261-270.
23. Haug K, Warnstedt M, Alekov AK, et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet, 2003, 33(7):527-532.
24. Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS? 2. Nat Genet, 2000, 24(4):343-345.
25. Wallace RH, Wang DW, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Nap-channel beta1 subunit gene SCN1B. Nat Genet, 1998, 19(4):366-370.
26. Wallace RH, Scheffer IE, Barnett S, et al. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet, 2001, 68(4):859-865.
27. Harkin LA, Bowser DN, Dibbens LM, et al. Truncation of the GABA (A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet, 2002, 70(2):530-536.
28. Baulac S, Huberfeld G, Gourfinkel-An I, et al. First genetic evidence of GABA (A) receptor dysfunction in epilepsy:a mutation in the gamma2-subunit gene. Nat Genet, 2001, 28(1):46-48.
29. Wallace RH, Marini C, Petrou S, et al. Mutant GABA (A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet, 2001, 28(1):49-52.
30. Inoue Y, Zifkin B. Praxis induction and thinking induction:one or two mechanisms? A controversy. In:Wolf P, Inoue Y, Zifkin B, editors. Reflex epilepsies. Current problems in epilepsy series, vol 19. Paris:John Libbey Eurotext, 2004:41-55.
31. Casaubon L, Pohlmann-Eden B, Khosravani H, et al. Video-EEG evidence of lateralized clinical features in primary generalized epilepsy with tonic-clonic seizures. Epileptic Disord, 2003, 5(2):149-156.
32. Panayiotopoulos CP, Obeid T, Tahan AR. Juvenile myoclonic epilepsy:a 5-year prospective study. Epilepsia, 1994, 35(4):285-296.
33. Aliberti V, Grunewald RA, Panayiotopoulos CP, et al. Focal electroencephalographic abnormalities in juvenile myoclonic epilepsy. Epilepsia, 1994, 35(3):297-301.
34. Rosati A, Agha Khani Y, Dubeau F, et al. The intractable idiopathic generalized epilepsies. Epilepsia, 2002, 43(Suppl 7):150.
35. Wolf P. Regional manifestation of idiopathic epilepsy. Introduction. In:Wolf P, editor. Epileptic seizures and syndromes. London:John Libbey, 1994:265-267.
36. Huang Haug K, Hallmann K, Rebstock J, et al. The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy. Epilepsy Res, 2001, 47(2):243-246.
37. Anna Volzone. Lack of evidence for association between D2S124 and D2S111 polymorphisms of the SCN2A gene and idiopathic generalized epilepsy with generalized tonic-clonic seizures. Journal of Child Neurology, 2007, 22(7):907-910.

Journal of Epilepsy

特发性全面性癫痫易感基因的研究

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