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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Epilepsy Behav Rep
Autori principali: Desai, Karan M., Kumar, Piyush, Ravat, Parthvi S., Ravat, Sangeeta H., Jain, Neeraj, Agrawal, Shruti, Ansari, Rahil
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2020
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7797504/
https://ncbi.nlm.nih.gov/pubmed/33458645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebr.2020.100401
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi