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.

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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

 

​我們可以提供的檢測

​如果你有癲癇或是神經基因相關的檢測問題需要諮詢 歡迎跟我們團隊聯絡

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​​癲癇基因組套

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​​平腦症基因組套

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​全外顯子及全基因定序

​​Epilepsy Gene Panel

​​針對超過80種癲癇基因使用次世代定序檢測

Lissencephaly Gene Testing

​針對平腦症20種以上的基因進行檢測,對未知的病患提供尋找新基因的研究機會

Whole exome and whole genome sequencing

​​目前是研究項目用來尋找新的癲癇基因突變,若有興趣知道自己適不適符合研究條件,可以跟研究團隊聯絡

 
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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

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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

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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

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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

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Professor Meng-Han Tsai, MD, PhD

Director

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Ms Shu-Ting Chuang

Clinical Research Assistant

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Su-Yu Kuo

Laboratory Research Assistant

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Yan-Shun Chang

Laboratory Research Assistant

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Chih-Hsiang Lin, MD

Consultant & Assistant Professor

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Chen-Jui Ho, MD

Consultant

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 Yan-Ting Lu, MD

Consultant

 
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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

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