Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

BACKGROUND: Epileptic encephalopathies are a group of childhood epilepsies that display high phenotypic and genetic heterogeneity. The recent, extensive use of next-generation sequencing has identified a large number of genes in epileptic encephalopathies, including UBA5 in which biallelic mutations...

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Detalles Bibliográficos
Autores principales: Arnadottir, Gudny A., Jensson, Brynjar O., Marelsson, Sigurdur E., Sulem, Gerald, Oddsson, Asmundur, Kristjansson, Ragnar P., Benonisdottir, Stefania, Gudjonsson, Sigurjon A., Masson, Gisli, Thorisson, Gudmundur A., Saemundsdottir, Jona, Magnusson, Olafur Th., Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Stefansson, Kari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5623963/
https://www.ncbi.nlm.nih.gov/pubmed/28965491
http://dx.doi.org/10.1186/s12881-017-0466-8

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