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A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy.
Schmid, S J; Wagner, M; Goetz, C; Makowski, C; Freisinger, P; Berweck, S; Mall, V; Burdach, S; Juenger, H.
Affiliation
  • Schmid SJ; Department of Pediatrics, Kinderklinik Muenchen Schwabing, Klinikum Schwabing, StKM GmbH und Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
  • Wagner M; Institute of Human Genetics, Technical University Munich, Munich, Germany.
  • Goetz C; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Makowski C; Institut für Neurogenomik, Helmholtz Zentrum München, Neuherberg, Germany.
  • Freisinger P; Department of Pediatrics, Kinderklinik Muenchen Schwabing, Klinikum Schwabing, StKM GmbH und Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
  • Berweck S; Department of Pediatrics, Kinderklinik Muenchen Schwabing, Klinikum Schwabing, StKM GmbH und Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
  • Mall V; Department of Pediatrics, Klinikum Reutlingen, Reutlingen, Germany.
  • Burdach S; Schoen Klinik Vogtareuth, Epilepsy Center for Children and Adolescents, Hospital for Neuropediatrics and Neurological Rehabilitation, Vogtareuth, Germany.
  • Juenger H; Dr. von Hauner Children's Hospital, Munich University, München, Germany.
Neuropediatrics ; 50(3): 197-201, 2019 06.
Article in En | MEDLINE | ID: mdl-30939602
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Status Epilepticus / Brain Diseases / Epilepsy, Generalized / Dynamins / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Child, preschool / Humans / Male Language: En Journal: Neuropediatrics Year: 2019 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Status Epilepticus / Brain Diseases / Epilepsy, Generalized / Dynamins / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Child, preschool / Humans / Male Language: En Journal: Neuropediatrics Year: 2019 Document type: Article