Article
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
American journal of medical genetics. Part A - 1 Nov 2016
Raviglione Federico, Conte Giorgio, Ghezzi Daniele, Parazzini Cecilia, Righini Andrea, Vergaro Raffaella, Legati Andrea, Spaccini Luigina, Gasperini Serena, Garavaglia Barbara, Mastrangelo Massimo
Abstract excerpt
The FARS2 gene encodes the mitochondrial phenylalanyl-tRNA synthetase and is implicated in autosomal recessive combined oxidative phosphorylation deficiency 14, a clinical condition characterized by infantile onset epilepsy and encephalopathy. Mutations in FARS2 have been reported in only few patients, but a detailed description of seizures, electroencephalographic patterns, magnetic resonance imaging findings,...
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