醫師介紹

1. 英國倫敦學院大學神經學研究所博士(PhD, University College London (UCL), U.K)
2. 國立臺灣大學醫學系
3. 教育部部定副教授

專長與學術興趣：
癲癇、不自主運動及動作障礙相關疾病之基因診斷。
我們提供癲癇及相關疾病基因檢測服務如下：
1.單基因檢測 (費用10,200元)
• 威爾森氏症突變檢測 (Wilson disease/ATP7B)
• 腦血管屏障葡萄糖輸送缺陷突變檢測(Glucose Transport 1 Deficiency Syndrome/SLC2A1)
• 蕾特氏症突變檢測 (Rett syndrome/MECP2)
• 陣發性動作誘發型動作障礙突變檢測(paroxysmal kinesigenic dyskinesia/PRRT2)
• 平腦症突變檢測 (lissencephaly/LIS1, DCX)
2.特定基因檢測 (費用16,700元)
• 結節性硬化症次世代定序突變檢測 (TSC1, TSC2)
• 神經纖維瘤次世代定序突變檢測 (NF1, NF2)
• 卓飛症候群次世代定序突變檢測(Dravet syndrome, SCN1A)
3.多基因檢測 (費用23,200)
• 癲癇次世代定序突變檢測 (Epilepsy)
• 腦皮質發育異常次世代定序突變檢測 (MCD)
• 巴金森氏症及其他動作障礙次世代定序突變檢測(Parkinson disease/Dystonia/other movement disorders)
4.海綿竇血管瘤次世代定序突變檢測 (Cerebral cavernous malformation) :生物醫學研究，不收費

如欲聯絡檢測時間，或有相關問題詢問，請於週一至週五上午9:00-12:00或下午1:30-5:30來電
市話：02-2871-2121轉7580
手機: 0972-035-675
找劉祐岑醫師研究助理：蔡護理師或陳護理師。

得獎紀錄：
台北榮民總醫院實習醫學生票選最佳主治醫師
台北榮民總醫院PGY票選優良教學醫師
國立陽明大學醫學院優良教師
108年第15屆榮總台灣聯合大學合作研究計畫『優良壁報論文』第一名
台灣動作障礙學會106年年會優秀論文
台灣癲癇醫學會106年研究論文獎第一名

1. Cellular secretion and cytotoxicity of transthyretin mutant proteins underlie late onset amyloidosis and neurodegeneration. R B Ibrahim, JW Tsai*, YT Liu*, et al. Cell Mol Life Sci. (2020) 77:1421–1434.
2. Biophysical characterization and pharmacological modulation of Transthyretin Ala97Ser mutant. YT Liu, KP Lin*, TY Yu*, et al. Ann Clin Transl Neurol. 2019 Oct;6(10):1961-1970.
3. Novel SCA19/22-associated KCND3 mutations disrupt human KV4.3 protein biosynthesis and channel gating. Hsiao CT, Fu SJ, Liu YT, Soong BW*, Jeng CJ*, et al. Hum Mutat. 2019 Nov;40(11):2088-2107.
4. Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan. Chao HC, Liao YC, Liu YT, Guo YC, Chang FP, Lee YC*, Lin KP*. Ann Clin Transl Neurol. 2019 Apr 9;6(5):913-922.
5. PRRT2 Missense Mutations Cluster near C-terminus and Frequently Lead to Protein Mislocalization. Tsai MH, Nian FS, Hsu MH, Liu WS, Liu YT, Liu C, Lin PH, Hwang DY, Chuang YC, Tsai JW*. Epilepsia. 2019 May;60(5):807-817.
6. Contributions of Animal Models to the Mechanisms and Therapies of Transthyretin Amyloidosis. Ibrahim RB, Liu YT, Yeh SY, Tsai JW. Front Physiol. 2019 Apr 2;10:338.
7. PDXK mutations cause polyneuropathy responsive to PLP supplementation. Chelban V, Liu YT, Houlden H*, et al ; Care4Rare Canada Consortium; SYNaPS Study Group. Ann Neurol. 2019 Aug;86(2):225-240.
8. Aberrant sensory gating of the primary somatosensory cortex contributes to the motor circuit dysfunction in paroxysmal kinesigenic dyskinesia. Liu YT, Hsiao FJ*, et al. Front Neurol. 2018 Oct 15;9:831.
9. Clinical and Biophysical Characterization of Nineteen GJB1 Mutations. Tsai PC, Yang DM, Liao YC, Chiu YU, Kuo HC, Su YP, Guo YC, Soong BW, Lin KP, Liu YT*(Co-corresponding Author), Lee YC*. Ann Clin Transl Neurol. 2016 Sep 1;3(11):854-865.
10. PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects. Liu YT, Nian FS, Chou WJ, Tai CY, Kwan SY, Chen C, Kuo PW, Lin PH, Chen CY, Lee YC, Soong BW*, Tsai JW*. Oncotarget. 2016 Jun 28;7(26):39184-39196. (SCI)
11. What we have learned from the next generation sequencing: contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases. Liu YT, Lee YC, Soong BW. J Neurogenet. 2015 Jun-Sep;29(2-3):103-12.
12. Extended phenotypic spectrum of KIF5A mutations: from spastic paraplegia to axonal neuropathy. Liu YT, Reilly MM* and Houlden H* et al. Neurology. 2014 Jul 9;83(1):1-8.
13. Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. Liu YT, Houlden H*, et al. J Neurol Neurosurg Psychiatry. 2014 May;85(5):493-8.
14. Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Tucci A, Liu YT, Houlden H*, et al. J Neurol Neurosurg Psychiatry. 2014 May;85(5):486-92.

Last updated 2020.9.26