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

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

Abstract 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 m...

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Bibliographic Details
Main Authors: Gudny A. Arnadottir, Brynjar O. Jensson, Sigurdur E. Marelsson, Gerald Sulem, Asmundur Oddsson, Ragnar P. Kristjansson, Stefania Benonisdottir, Sigurjon A. Gudjonsson, Gisli Masson, Gudmundur A. Thorisson, Jona Saemundsdottir, Olafur Th. Magnusson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Kari Stefansson
Format: Article
Language:English
Published: BMC 2017-10-01
Series:BMC Medical Genetics
Subjects:
Epileptic encephalopathy
UBA5
Hypomorphic mutation
Exonic splicing mutation
Ufmylation
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-017-0466-8

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http://link.springer.com/article/10.1186/s12881-017-0466-8

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