癫痫遗传学分析的临床教学实践探讨_Journal of Epilepsy

Authors：

汪洁 ^1,2 , 冀晶晶 ^1,2 , 谢鑫 ^1,2 ,  成传访 ^1,2

1. ;
2. ;

Corresponding author：

成传访, Email: chuanfangcheng@163.com

Keywords：

癫痫; 遗传学分析; 精准诊疗; 多模式教学

DOI：

10.7507/2096-0247.202409005

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

癫痫是一种由多种原因引起的慢性神经系统疾病，遗传因素在癫痫中的作用日益显著。随着精准医学的快速发展，目前已发现近3 000个基因与癫痫相关，癫痫的遗传学分析在临床诊断和个体化精准治疗中亦日益受到重视，因此提高癫痫专科医生遗传学理论知识、基因变异解读技能以及精准诊疗水平势在必行。本文旨在探讨如何在临床教学实践中进行癫痫遗传学分析教学，我们采取多模式教学方法，包括遗传学理论知识学习、基于案例的学习（case-based learning，CBL）示范教学、一对一教学、病例实操教学、小组讨论教学及临床见习教学，以培养适应精准医学快速发展的高素质创新型医学人才。

1.	Pal DK, Pong AW, Chung WK. Genetic evaluation and counseling for epilepsy. Nature reviews Neurology, 2010, 6(8): 445-453.
2.	Dunn P, Albury CL, Maksemous N, et al. Next generation sequencing methods for diagnosis of epilepsy syndromes. Front Genet, 2018, 9: 20.
3.	Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet, 1995, 11(2): 201-203.
4.	Wang J, Lin ZJ, Liu L, et al. Epilepsy-associated genes. Seizure, 2017, 44: 11-20.
5.	Zhang MW, Liang XY, Wang J, et al. Epilepsy-associated genes: an update. Seizure, 2024, 116: 4-13.
6.	Jiang Z, Wang H, Michal JJ, et al. Genome wide sampling sequencing for SNP genotyping: methods, challenges and future development. Int J Biol Sci, 2016, 12(1): 100-108.
7.	Newey PJ, Nesbit MA, Rimmer AJ, et al. Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas. J Clin Endocrinol Metab, 2012, 97(10): E1995-2005.
8.	Su T, Chen ML, Liu LH, et al. Critical role of E1623 residue in S3-S4 Loop of Nav1. 1 channel and correlation between nature of substitution and functional alteration. Front Mol Neurosci, 2021, 14: 797628.
9.	Hinttala R, Smeets R, Moilanen JS, et al. Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency. J Med Genet, 2006, 43(11): 881-886.
10.	Malfatti E, Laforet P, Jardel C, et al. High risk of severe cardiac adverse events in patients with mitochondrial m. 3243A>G mutation. Neurology, 2013, 80(1): 100-105.
11.	Brockmann K. The expanding phenotype of GLUT1-deficiency syndrome. Brain Dev, 2009, 31(7): 545-552.
12.	Harkin LA, McMahon JM, Iona X, et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain, 2007, 130(Pt 3): 843-852.
13.	Heron SE, Grinton BE, Kivity S, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet, 2012, 90(1): 152-160.

1. Pal DK, Pong AW, Chung WK. Genetic evaluation and counseling for epilepsy. Nature reviews Neurology, 2010, 6(8): 445-453.
2. Dunn P, Albury CL, Maksemous N, et al. Next generation sequencing methods for diagnosis of epilepsy syndromes. Front Genet, 2018, 9: 20.
3. Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet, 1995, 11(2): 201-203.
4. Wang J, Lin ZJ, Liu L, et al. Epilepsy-associated genes. Seizure, 2017, 44: 11-20.
5. Zhang MW, Liang XY, Wang J, et al. Epilepsy-associated genes: an update. Seizure, 2024, 116: 4-13.
6. Jiang Z, Wang H, Michal JJ, et al. Genome wide sampling sequencing for SNP genotyping: methods, challenges and future development. Int J Biol Sci, 2016, 12(1): 100-108.
7. Newey PJ, Nesbit MA, Rimmer AJ, et al. Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas. J Clin Endocrinol Metab, 2012, 97(10): E1995-2005.
8. Su T, Chen ML, Liu LH, et al. Critical role of E1623 residue in S3-S4 Loop of Nav1. 1 channel and correlation between nature of substitution and functional alteration. Front Mol Neurosci, 2021, 14: 797628.
9. Hinttala R, Smeets R, Moilanen JS, et al. Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency. J Med Genet, 2006, 43(11): 881-886.
10. Malfatti E, Laforet P, Jardel C, et al. High risk of severe cardiac adverse events in patients with mitochondrial m. 3243A>G mutation. Neurology, 2013, 80(1): 100-105.
11. Brockmann K. The expanding phenotype of GLUT1-deficiency syndrome. Brain Dev, 2009, 31(7): 545-552.
12. Harkin LA, McMahon JM, Iona X, et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain, 2007, 130(Pt 3): 843-852.
13. Heron SE, Grinton BE, Kivity S, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet, 2012, 90(1): 152-160.

Journal of Epilepsy

Latest Articles癫痫遗传学分析的临床教学实践探讨

Abstract Full text Figures/Tables Video References Cited by

Format

Content