UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood.
Journal
Neuropediatrics
ISSN: 1439-1899
Titre abrégé: Neuropediatrics
Pays: Germany
ID NLM: 8101187
Informations de publication
Date de publication:
02 2019
02 2019
Historique:
pubmed:
6
12
2018
medline:
31
12
2019
entrez:
6
12
2018
Statut:
ppublish
Résumé
Neurodegenerative diseases of childhood present with progressive decline in cognitive, social, and motor function and are frequently associated with seizures in different stages of the disease. Here we report a patient with severe progressive neurodegeneration with drug-resistant epilepsy of unknown etiology from the age of 2 years. Using whole exome sequencing, we found heterozygous missense de novo variant c.628G > A (p.Glu210Lys) in the Our report expands the complex phenotype of neurodegeneration associated with the c.628G > A variant in the
Identifiants
pubmed: 30517966
doi: 10.1055/s-0038-1676288
doi:
Substances chimiques
Pol1 Transcription Initiation Complex Proteins
0
transcription factor UBF
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
57-60Informations de copyright
Georg Thieme Verlag KG Stuttgart · New York.
Déclaration de conflit d'intérêts
None of the authors has any conflicts of interest to disclose.