Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.

Abstract

Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder characterised by early onset seizures, progressive microcephaly and developmental delay. The disorder was named pontocerebellar hypoplasia type 6 (PCH6) based on the corresponding radiological findings observed in the original… (More)
DOI: 10.1136/archdischild-2013-304308

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Cite this paper

@article{Kastrissianakis2013SubduralEA, title={Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.}, author={Katherina Kastrissianakis and Geetha Anand and Gerardine Quaghebeur and S. F. Price and Prab Prabhakar and Jasmina Marinova and Garry Brown and Tony McShane}, journal={Archives of disease in childhood}, year={2013}, volume={98 12}, pages={1004-7} }