癲癇遺傳學分析的臨床教學實踐探討_Journal of Epilepsy

Authors：

汪潔 ^1,2 , 冀晶晶 ^1,2 , 謝鑫 ^1,2 ,  成傳訪 ^1,2

1. ;
2. ;

Corresponding?author：

成傳訪, Email: chuanfangcheng@163.com

Keywords：

癲癇; 遺傳學分析; 精準診療; 多模式教學

DOI：

10.7507/2096-0247.202409005

Video：

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癲癇是一種由多種原因引起的慢性神經系統疾病，遺傳因素在癲癇中的作用日益顯著。隨著精準醫學的快速發展，目前已發現近3 000個基因與癲癇相關，癲癇的遺傳學分析在臨床診斷和個體化精準治療中亦日益受到重視，因此提高癲癇專科醫生遺傳學理論知識、基因變異解讀技能以及精準診療水平勢在必行。本文旨在探討如何在臨床教學實踐中進行癲癇遺傳學分析教學，我們采取多模式教學方法，包括遺傳學理論知識學習、基于案例的學習（case-based learning，CBL）示范教學、一對一教學、病例實操教學、小組討論教學及臨床見習教學，以培養適應精準醫學快速發展的高素質創新型醫學人才。

Citation： 汪潔, 冀晶晶, 謝鑫, 成傳訪. 癲癇遺傳學分析的臨床教學實踐探討. Journal of Epilepsy, 2024, 10(6): 518-521. doi: 10.7507/2096-0247.202409005 Copy

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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.

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癲癇遺傳學分析的臨床教學實踐探討

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