癲癇及神經疾病基因研究
Kaohsiung Epilepsy and Neurogenetics Research Program
Kaohsiung Epilepsy and Neurogenetics Research Program has been dedicated to improve the diagnosis, treatment and advancement of disease mechanism of epilepsy and related neurological disorders since 2013.
平腦新基因 NDEL1 發表於 Acta Neuropathologica
台灣團隊再一次發表平腦新基因
我們在一位台灣的病患身上發現又一個新的平腦基因 經過多年的尋找 終於在地球的另一端的義大利找到同樣基因突變造成平腦的另一位病患 配合陽明交通大學的研究團隊 我們再一次向世界證明我們研究平腦症基因的實力是亞洲第一 也為這個領域的研究做出有意義的貢獻
BICD2也可以有平腦表現 發表於Acta Neuropathologica Comminication
我們發現BICD2不只造成SMA 也可以導致平腦症
BAIAP2 平腦新基因發表 "發育" Development 期刊
第一個Actin相關平腦基因
我們發現一個台灣病患有BAIAP2的平腦新基因
平腦新基因 CEP85L 發表於 Neuron
我們在一位高雄長庚的平腦病人身上利用全基因體定序研究,發現了一個新的人類平腦基因,並且進一步與澳洲,美國及馬來西亞學者聯繫,發現總共13個因為此基因突變的病人,並且結合陽明大學蔡金吾和王婉菁老師的基礎研究團隊對這個基因進行功能性研究,證明CEP85L突變會造成神經元移行異常,這個結果發表於世界頂尖的神經科學期刊 Neuron
More About Kaohsiung Epilepsy and Neurogenetics Research Program
How We Got Here
Since 2013, Dr Meng-Han Tsai completed his PhD training in Epilepsy Genetics at the University of Melbourne, Australia under the supervision of the world renowned Prof Sam Berkovic and Prof Ingrid Scheffer. He initiated the research program for epilepsy genetic at Kaohsiung Chang Gung Memorial Hospital, Taiwan. The research program has become the largest epilepsy genetics group in Taiwan with more than 1000 participants.
We have successfully identified more than 100 pathogenic variants in different epilepsy genes in Taiwan. Recently, we identified several novel genes related to brain malformations and epilepsy.
We never stop improving, we use next generation sequencing (NGS) and recently third generation sequencing (TGS) technology to study the genetic cause of epilepsy and related disorders. We actively collaborate with basic neuroscientists to unravel the underlying mechanisms of epilepsy and related neurological disorders.
Publications
研究成果
台灣發現的平腦症新基因 CEP85L
March 1, 2020
我們在台灣的平腦症病人身上使用次世代定序技術發現人類平腦症的新基因CEP85L
同時國內陽明大學和澳洲,美國,馬來西亞多國團隊合作發表於神經科學頂尖的期刊 Neuron上
Epilepsia 2019
我們研究PRRT2錯義突變發現這類型突變會聚集在蛋白質C端的位置,並且導致PRRT2蛋白質無法表現到細胞膜上,進而引起癲癇或是異動症
2019
我們研究重積型癲癇的預後預測的各種量表在加護病房的使用狀況
Research Team
Get to Know Us
Professor Meng-Han Tsai, MD, PhD
Director
Ms Shu-Ting Chuang
Clinical Research Assistant
Su-Yu Kuo
Laboratory Research Assistant
Yan-Shun Chang
Laboratory Research Assistant
Chih-Hsiang Lin, MD
Consultant & Assistant Professor
Chen-Jui Ho, MD
Consultant
Yan-Ting Lu, MD
Consultant
CV
Background Details
Director
2017-
Director of Epilepsy Program, Kaohsiung Chang Gung Memorial Hospital, Taiwan.
The Epilepsy Program at KCGMH is the biggest epilepsy center in Kaohsiung City.
President
2018-
President of Kaohsiung Epilepsy Association, which is a local patient group at Kaohsiung City, Taiwan.
Professor
2021
Professor of Neurology at KCGMH, Taiwan.
Board Member
2017-
Board Member of Taiwan Epilepsy Society
Board Member
2019 -
台灣神經罕見疾病學會
Deputy Secretory
2020
台灣神經免疫學會
教育委員會主委
2021
台灣神經醫學會
Deputy Director
2021-
Department of Medical Research
如果你想參加我們的研究 歡迎跟我們聯繫
No. 123號, Dapi Road, Niaosong District, Kaohsiung City, Taiwan 833
07 731 7123 分機 2285