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

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

Publikováno v: In Epilepsy & Behavior Reports 2021 15

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

Autor: Desai KM; Department of Neurology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India., Kumar P; Department of Neurology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India., Ravat PS; Department of Neurology, PD Hinduja National Hospital and Medical Research Centre, Mumbai, Maharashtra, India., Ravat SH; Department of Neurology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India., Jain N; Department of Neurology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India., Agrawal S; Department of Neurology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India., Ansari R; Department of Neurology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India.

Publikováno v: Epilepsy & behavior reports [Epilepsy Behav Rep] 2020 Nov 16; Vol. 15, pp. 100401. Date of Electronic Publication: 2020 Nov 16 (Print Publication: 2021).