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Paper Details

Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.
Epilepsia Open
6
2022
RARS2, RARS2 variants, absence, atonic, myoclonic, and focal seizures, developmental and epileptic encephalopathy, generalized and focal seizures, hypoglycaemia, infantile encephalopathy, lactic acidosis, movement disorder, myoclonic developmental and epileptic encephalopathy, non-convulsive status epilepticus, nuclear gene, patients, pontocerebellar hypoplasia
Author NameAffiliation
Guillem de Valles-IbáñezUniversity of Otago
Michael S HildebrandEpilepsy Research Centre, University of Melbourne
Michael S HildebrandMurdoch Children's Research Institute, Royal Children's Hospital
Melanie BahloThe Walter and Eliza Hall Institute of Medical Research
Melanie BahloUniversity of Melbourne
Chontelle KingUniversity of Otago
Matthew ColemanEpilepsy Research Centre, University of Melbourne
Matthew ColemanMurdoch Children's Research Institute, Royal Children's Hospital
Timothy E GreenEpilepsy Research Centre, University of Melbourne
Timothy E GreenMurdoch Children's Research Institute, Royal Children's Hospital
John GoldsmithWaikato District Health Board
Sean DavisStarship Children's Hospital
Susan R DavisStarship Children's Hospital
Deepak GillThe Children's Hospital at Westmead
Simone MandelstamRoyal Children's Hospital
Ingrid E SchefferEpilepsy Research Centre, University of Melbourne
Ingrid E SchefferMurdoch Children's Research Institute, Royal Children's Hospital
Ingrid E SchefferThe Florey Institute of Neuroscience and Mental Health
Ingrid E SchefferUniversity of Melbourne, Austin Health and Royal Children's Hospital
Lynette G SadleirUniversity of Otago
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