ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
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| Title: | ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks. |
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| Authors: | Teunissen MWA; Department of Neurology, Maastricht University Medical Center, Maastricht, HX 6229, The Netherlands.; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze 5591 VE, The Netherlands., Lewerissa E; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands., van Hugte EJH; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands., Wang S; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Koolen DA; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Marcelis CLM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Brilstra E; Department of Human Genetics, University Medical Center Utrecht, Utrecht, CX 3584, The Netherlands., Howe JL; The Centre for Applied Genomics and Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Scherer SW; The Centre for Applied Genomics and Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3H7, Canada., Le Guillou X; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers 86000, France., Bilan F; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers 86000, France.; Laboratory of Experimental and Clinical Neurosciences University of Poitiers, INSERM U1084, Poitiers 86000, France., Primiano M; Department of Clinical Genetics, Morgan Stanley Children's Hospital of New York-Presbytarian, New York, NY, 10032, USA., Roohi J; Department of Clinical Genetics, Morgan Stanley Children's Hospital of New York-Presbytarian, New York, NY, 10032, USA.; Clinical Genetics, Kaiser Permanente Mid-Atlantic Permanente Medical Group, Rockville, MD 20852, USA., Piton A; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace (IGMA), Hôspitaux Universitaire de Strasbourg, Strasbourg, BP 426 67091, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France., de Saint Martin A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; Department of Pediatric Neurology, Strasbourg University Hospital, Hôspital de Hautepierre, Strasbourg, BP 426 67091, France., Baer S; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; Department of Pediatric Neurology, Strasbourg University Hospital, Hôspital de Hautepierre, Strasbourg, BP 426 67091, France., Seiffert S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tuebingen, 72076, Germany., Platzer K; Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany., Jamra RA; Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany., Syrbe S; Division of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany., Doering JH; Division of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany., Lakhani S; Department of neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, 10065, USA., Nangia S; Department of Pediatrics, Division of Child Neurology, New York Presbyterian Hospital-Weill Cornell Medical Center, New York, NY, 10032, USA., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Vermeulen RJ; Department of Neurology, Maastricht University Medical Center, Maastricht, HX 6229, The Netherlands., Rouhl RPW; Department of Neurology, Maastricht University Medical Center, Maastricht, HX 6229, The Netherlands.; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze 5591 VE, The Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, MD 6200, the Netherlands., Brunner HG; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze 5591 VE, The Netherlands.; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, MD 6200, the Netherlands.; Department of Clinical Genetics and GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, MD 6299, the Netherlands., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Nadif Kasri N; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands. |
| Source: | Human molecular genetics [Hum Mol Genet] 2023 Jul 04; Vol. 32 (14), pp. 2373-2385. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1460-2083 |
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| DOI: | 10.1093/hmg/ddad081 |
