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Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2016, Volume 20, Issue 3, pp. 412 - 417
Abstract Introduction Early onset epileptic encephalopathies (EOEEs) are a group of devastating diseases, manifesting in the first year of life with frequent... 
Pediatrics | Neurology | RARS2 | Pontocerebellar hypoplasia | Epileptic encephalopathy | Mitochondrial | Arginine-tRNA Ligase - genetics | Humans | Age of Onset | Fatal Outcome | Child, Preschool | Epilepsy - genetics | Female | Male | Epilepsy - physiopathology | Epilepsy - pathology | Siblings | Medical colleges | Genetic aspects | Electroencephalography | Seizures (Medicine) | Epilepsy | Medical genetics
Journal Article
Journal Article
American journal of human genetics, ISSN 0002-9297, 2012, Volume 90, Issue 1, pp. 152 - 160
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2012, Volume 47, Issue 4, pp. 279 - 283
Journal Article