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SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.
Ranza, Emmanuelle; Garcia-Tarodo, Stephanie; Varvagiannis, Konstantinos; Guipponi, Michel; Lobrinus, Johannes A; Bottani, Armand; Kern, Ilse; Kurian, Mary; Pittet, Marie-Pascale; Antonarakis, Stylianos E; Fluss, Joel; Korff, Christian M.
Affiliation
  • Ranza E; Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
  • Garcia-Tarodo S; Pediatric Neurology Unit, Department of Child and Adolescent, Geneva University Hospitals, Geneva, Switzerland.
  • Varvagiannis K; Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
  • Guipponi M; Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
  • Lobrinus JA; Neuropathology Unit, Department of Clinical Pathology, Geneva University Hospitals, Geneva, Switzerland.
  • Bottani A; Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
  • Kern I; Pediatric Metabolism Unit, Department of Child and Adolescent, Geneva University Hospitals, Geneva, Switzerland.
  • Kurian M; Pediatric Neurology Unit, Department of Child and Adolescent, Geneva University Hospitals, Geneva, Switzerland.
  • Pittet MP; Pediatric Neurology Unit, Department of Child and Adolescent, Geneva University Hospitals, Geneva, Switzerland.
  • Antonarakis SE; Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
  • Fluss J; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, Switzerland.
  • Korff CM; iGE3 Institute of Genetics and Genomics of Geneva, Geneva, Switzerland.
Am J Med Genet A ; 173(9): 2456-2460, 2017 Sep.
Article in En | MEDLINE | ID: mdl-28631894
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neuropeptides / Serpins / Myoclonic Epilepsies, Progressive Limits: Adolescent / Child / Humans / Male Language: En Journal: Am J Med Genet A Year: 2017 Document type: Article
Fulltext
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neuropeptides / Serpins / Myoclonic Epilepsies, Progressive Limits: Adolescent / Child / Humans / Male Language: En Journal: Am J Med Genet A Year: 2017 Document type: Article