Progressive Myoclonic Epilepsy’-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation

Karan M. Desai, Piyush Kumar,Parthvi S. Ravat,Sangeeta H. Ravat,Neeraj Jain,Shruti Agrawal,Rahil Ansari

Epilepsy & Behavior Reports（2021）

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摘要

•Epilepsy is rarely a presenting neurological feature of CTX, but a progressive myoclonic epilepsy.•A 'progressive myoclonic epilepsy'-like presentation of Cerebrotendinous Xanthomatosis (CTX) is novel to the best of our knowledge.

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关键词

Cerebrotendinous Xanthomatosis,Progressive myoclonic epilepsy,Epilepsy

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