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

15 Sept 2017

Abstract excerpt

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 were first described as pathogenic in 2016 (Colin E et al., Am J Hum Genet 99(3):695-703, 2016. Muona M et al., Am...

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PMID: 28965491
DOI: 10.1186/s12881-017-0466-8

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