UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood

Conclusions Our report expands the complex phenotype of neurodegeneration associated with the c.628G > A variant in the UBTF gene and helps to clarify the relation between this one single recurrent pathogenic variant described in this gene to date and its phenotype. The UBTF gene should be considered a novel candidate gene in neurodegeneration with or without epilepsy. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text

Source: Neuropediatrics - December 5, 2018 Category: Neurology Authors: Sedl áčková, Lucie La ššuthová, Petra Štěrbová, Katalin Haberlov á, Jana Vyhn álková, Emílie Neupauerov á, Jana Stan ěk, David Šedivá, Marie Kr šek, Pavel Seeman, Pavel Tags: Short Communication Source Type: research