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个人简介
Episodic phenomena (epilepsy, migraine, and cardiac arrhythmias) are among the most common disorders afflicting humans. Early in his career, Ptácek began studying patients with rare Mendelian muscle disorders (periodic paralysis) and proposed these as a model of more common episodic disorders. In 1990, he began systematically characterizing genes causing familial forms of periodic paralysis. This series of landmark discoveries identified mutant ion channel genes and laid the groundwork for the field now called the "channelopathies." He proposed that all the work in channelopathies of skeletal muscle would be model for episodic disorders of heart and brain. Subsequently, his group and others have identified homologous genes that (when mutated) cause cardiac arrhythmias, epilepsy, and migraine. He has gone from describing new syndromes to cloning causative genes, to biological study in vitro and in vivo (animal models).
研究兴趣
论文共 180 篇作者统计合作学者相似作者
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Handbook of clinical neurology (2024): 59-67
Zhongbo Chen,Emil K. Gustavsson,Hannah Macpherson, Claire Anderson, Chris Clarkson,Clarissa Rocca, Eleanor Self,Pilar Alvarez Jerez,Annarita Scardamaglia,David Pellerin,Kylie Montgomery, Jasmaine Lee,Delia Gagliardi, Huihui Luo,John Hardy,James Polke,Andrew B. Singleton,Cornelis Blauwendraat,Katherine D. Mathews,Arianna Tucci,Ying-Hui Fu,Henry Houlden,Mina Ryten,Louis J. Ptacek
MOVEMENT DISORDERSno. 3 (2024): 486-497
Journal of Clinical Investigation (2021)
neurogeneticsno. 2 (2021): 103-104
The Journal of clinical investigationno. 2 (2021)
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作者统计
#Papers: 180
#Citation: 11824
H-Index: 55
G-Index: 108
Sociability: 6
Diversity: 3
Activity: 22
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