医学
共济失调
脑病
癫痫
Dravet综合征
4-氨基吡啶
警觉
麻醉
内科学
药理学
儿科
精神科
钾通道
作者
Ulrike B. S. Hedrich,Stephan Lauxmann,Markus Wolff,Matthis Synofzik,Thomas Bast,Adrian Binelli,José M. Serratosa,Pedro Martínez-Ulloa,Nicholas M. Allen,Mary D. King,Kathleen M. Gorman,Bruria Ben Zeev,Michal Tzadok,Lily C. Wong‐Kisiel,Dragan Marjanović,Guido Rubboli,Sanjay M. Sisodiya,Florian Lutz,Harshad Pannikkaveettil Ashraf,Kirsten Torge
标识
DOI:10.1126/scitranslmed.aaz4957
摘要
-(gain-of-function)–encephalopathy and provide an online tool assisting physicians to select patients with gain-of-function mutations suited to this treatment.
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