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...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
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 |