RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.

[1]  R. Hevner,et al.  Neuropathologic Features of Pontocerebellar Hypoplasia Type 6 , 2014, Journal of neuropathology and experimental neurology.

[2]  C. Walsh,et al.  Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. , 2014, American journal of human genetics.

[3]  V. Tiranti,et al.  The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes , 2014, International journal of cell biology.

[4]  P. Prabhakar,et al.  Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations , 2013, Archives of Disease in Childhood.

[5]  K. Veeramah,et al.  Exome sequencing reveals new causal mutations in children with epileptic encephalopathies , 2013, Epilepsia.

[6]  N. Matsumoto,et al.  De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood , 2013, Nature Genetics.

[7]  E. Bertini,et al.  Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients , 2013, Journal of Inherited Metabolic Disease.

[8]  A. Paetau,et al.  Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. , 2012, Human molecular genetics.

[9]  B. Kamien,et al.  A genetic diagnostic approach to infantile epileptic encephalopathies , 2012, Journal of Clinical Neuroscience.

[10]  S. Rahman.  Mitochondrial disease and epilepsy , 2012, Developmental medicine and child neurology.

[11]  D. Saunders,et al.  Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2 , 2012, Journal of Inherited Metabolic Disease.

[12]  F. Baas,et al.  Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. , 2011, Brain : a journal of neurology.

[13]  W. Dobyns,et al.  Pontocerebellar hypoplasia type 6: A British case with PEHO‐like features , 2010, American journal of medical genetics. Part A.

[14]  J. Gomori,et al.  Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. , 2007, American journal of human genetics.