GOSR2-related progressive myoclonus ataxia
id:
gosr2-related-progressive-myoclonus-ataxia-315-10306978
title:
GOSR2-related progressive myoclonus ataxia
text:
GOSR2-related progressive myoclonus ataxia, also known as Progressive myoclonic epilepsy type 6 is a rare genetic type of progressive myoclonus ataxia which is characterized by progressive myoclonic epilepsy with an early onset which is associated with generalized tonic-clonic seizures, petit mal seizures, and drop attacks, variable degrees of scoliosis, areflexia, high levels of creatine kinase serum, and late-onset cognitive decline. According to OMIM, only 12 cases have been described in medi
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/GOSR2-related_progressive_myoclonus_ataxia
date created:
date modified:
2023-11-02T05:46:25Z
main entity:
{"identifier":"Q63253182","url":"https://www.wikidata.org/entity/Q63253182"}
image:
fields total:
13
integrity:
14