Translational Neuroscience (Jan 2024)
Brain expression profiles of two SCN1A antisense RNAs in children and adolescents with epilepsy
- Schneider Marius Frederik,
- Vogt Miriam,
- Scheuermann Johanna,
- Müller Veronika,
- Fischer-Hentrich Antje H. L.,
- Kremer Thomas,
- Lugert Sebastian,
- Metzger Friedrich,
- Kudernatsch Manfred,
- Kluger Gerhard,
- Hartlieb Till,
- Noachtar Soheyl,
- Vollmar Christian,
- Kunz Mathias,
- Tonn Jörg Christian,
- Coras Roland,
- Blümcke Ingmar,
- Pace Claudia,
- Heinen Florian,
- Klein Christoph,
- Potschka Heidrun,
- Borggraefe Ingo
Affiliations
- Schneider Marius Frederik
- Division of Molecular Biology, Biomedical Center Munich, Ludwig Maximilians University, Munich, Germany
- Vogt Miriam
- ISAR Bioscience GmbH, Planegg, Germany
- Scheuermann Johanna
- Division of Molecular Biology, Biomedical Center Munich, Ludwig Maximilians University, Munich, Germany
- Müller Veronika
- Division of Molecular Biology, Biomedical Center Munich, Ludwig Maximilians University, Munich, Germany
- Fischer-Hentrich Antje H. L.
- Munich Medical Research School, Ludwig Maximilians University, Munich, Germany
- Kremer Thomas
- Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, F Hoffmann-La Roche Ltd, Basel, Switzerland
- Lugert Sebastian
- Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, F Hoffmann-La Roche Ltd, Basel, Switzerland
- Metzger Friedrich
- Versameb AG, Hochbergerstrasse 60C, 4057, Basel, Switzerland
- Kudernatsch Manfred
- Clinic for Neurosurgery, Schoen-Klinik Vogtareuth, Germany
- Kluger Gerhard
- Paracelsus Medical University, Salzburg, Austria
- Hartlieb Till
- Paracelsus Medical University, Salzburg, Austria
- Noachtar Soheyl
- Department of Neurology, Comprehensive Epilepsy Center, University Hospital of Munich, Ludwig Maximilians University, Munich, Germany
- Vollmar Christian
- Department of Neurology, Comprehensive Epilepsy Center, University Hospital of Munich, Ludwig Maximilians University, Munich, Germany
- Kunz Mathias
- Department of Neurosurgery, University Hospital of Munich, Ludwig Maximilians University, Munich, Germany
- Tonn Jörg Christian
- Department of Neurosurgery, University Hospital of Munich, Ludwig Maximilians University, Munich, Germany
- Coras Roland
- Department of Neuropathology, University Hospital Erlangen, Erlangen, Germany
- Blümcke Ingmar
- Department of Neuropathology, University Hospital Erlangen, Erlangen, Germany
- Pace Claudia
- Institute of Pharmacology, Toxicology, and Pharmacy, Ludwig Maximilians University, Munich, Germany
- Heinen Florian
- Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, University Hospital of Munich, Ludwig Maximilians University, Munich, Germany
- Klein Christoph
- Department of Pediatrics, University Hospital of Munich, Ludwig Maximilians University, Munich, Germany
- Potschka Heidrun
- Institute of Pharmacology, Toxicology, and Pharmacy, Ludwig Maximilians University, Munich, Germany
- Borggraefe Ingo
- Comprehensive Epilepsy Center, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, University Hospital of Munich, Ludwig Maximilians University, Munich, Germany
- DOI
- https://doi.org/10.1515/tnsci-2022-0330
- Journal volume & issue
-
Vol. 15,
no. 1
pp. e1310 – 75
Abstract
Heterozygous mutations within the voltage-gated sodium channel α subunit (SCN1A) are responsible for the majority of cases of Dravet syndrome (DS), a severe developmental and epileptic encephalopathy. Development of novel therapeutic approaches is mandatory in order to directly target the molecular consequences of the genetic defect. The aim of the present study was to investigate whether cis-acting long non-coding RNAs (lncRNAs) of SCN1A are expressed in brain specimens of children and adolescent with epilepsy as these molecules comprise possible targets for precision-based therapy approaches.
Keywords
