Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition.
European Journal of Paediatric Neurology(2020)
摘要
•PTU associated with further symptoms such as developmental delay or ataxia seems to be more persistent.•PTU can be associated with genetic mutations in the CACNA1A gene but can also be of multifactorial genesis.•Treatment with carbonic anhydrase inhibitors should be considered in all children with persisting or severe forms of PTU.
更多查看译文
关键词
Paroxysmal tonic upgaze,Episodic ataxia,SIM1,Acetazolamide,Sultiame,CACNA1A
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络