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

Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal-recessive inborn disorder of bile acid metabolism due to mutations in the CYP27A1 gene. It presents with a diverse range of neurological and non-neurological symptoms. We present a case of CTX with a progressive myoclonic epilepsy (PME) like p...

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Detalles Bibliográficos
Autores principales: Desai, Karan M., Kumar, Piyush, Ravat, Parthvi S., Ravat, Sangeeta H., Jain, Neeraj, Agrawal, Shruti, Ansari, Rahil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7797504/
https://www.ncbi.nlm.nih.gov/pubmed/33458645
http://dx.doi.org/10.1016/j.ebr.2020.100401

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