Clinical findings in a patient withFARS2mutations and early-infantile-encephalopathy with epilepsy-Reference-Cited by-同舟云学术

Clinical findings in a patient withFARS2mutations and early-infantile-encephalopathy with epilepsy

Published:2016-08-23 Issue:11 Volume:170 Page:3004-3007
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Raviglione Federico¹,Conte Giorgio²³,Ghezzi Daniele⁴,Parazzini Cecilia³,Righini Andrea³,Vergaro Raffaella¹,Legati Andrea⁴,Spaccini Luigina⁵,Gasperini Serena⁶,Garavaglia Barbara⁴,Mastrangelo Massimo¹

Affiliation:

1. Paediatric Neurology Unit; Children's Hospital V. Buzzi; Milan Italy

2. Postgraduation School in Radiodiagnostics; Università degli Studi di Milano; Milan Italy

3. Department of Paediatric Radiology and Neuroradiology; Children's Hospital V. Buzzi; Milan Italy

4. Molecular Neurogenetics Unit; Fondazione IRCCS Istituto Neurologico “Carlo Besta”; Milan Italy

5. Clinical Genetics Service; Children's Hospital V. Buzzi; Milan Italy

6. Department of Pediatrics; Fondazione MBBM; San Gerardo Hospital; Monza Italy

Funder

Telethon Network of Genetic Biobanks

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference10 articles.

1. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency;Almalki;Biochim Biophys Acta,2014

2. The mitochondrial aminoacyl tRNA synthetases: Genes and syndromes;Diodato;Int J Cell Biol,2014

3. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy;Elo;Hum Mol Genet,2012

4. Cerebral MRI abnormalities associated with vigabatrin therapy;Pearl;Epilepsia,2009

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