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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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Teunissen+MWA%22">Teunissen MWA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lewerissa+E%22">Lewerissa E</searchLink>; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Hugte+EJH%22">van Hugte EJH</searchLink>; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Wang+S%22">Wang S</searchLink>; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Ockeloen+CW%22">Ockeloen CW</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Koolen+DA%22">Koolen DA</searchLink>; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Marcelis+CLM%22">Marcelis CLM</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Brilstra+E%22">Brilstra E</searchLink>; Department of Human Genetics, University Medical Center Utrecht, Utrecht, CX 3584, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Howe+JL%22">Howe JL</searchLink>; The Centre for Applied Genomics and Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Le+Guillou+X%22">Le Guillou X</searchLink>; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers 86000, France.<br /><searchLink fieldCode="AU" term="%22Bilan+F%22">Bilan F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Primiano+M%22">Primiano M</searchLink>; Department of Clinical Genetics, Morgan Stanley Children's Hospital of New York-Presbytarian, New York, NY, 10032, USA.<br /><searchLink fieldCode="AU" term="%22Roohi+J%22">Roohi J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Piton+A%22">Piton A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22de+Saint+Martin+A%22">de Saint Martin A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Baer+S%22">Baer S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Seiffert+S%22">Seiffert S</searchLink>; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tuebingen, 72076, Germany.<br /><searchLink fieldCode="AU" term="%22Platzer+K%22">Platzer K</searchLink>; Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany.<br /><searchLink fieldCode="AU" term="%22Jamra+RA%22">Jamra RA</searchLink>; Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany.<br /><searchLink fieldCode="AU" term="%22Syrbe+S%22">Syrbe S</searchLink>; Division of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany.<br /><searchLink fieldCode="AU" term="%22Doering+JH%22">Doering JH</searchLink>; Division of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany.<br /><searchLink fieldCode="AU" term="%22Lakhani+S%22">Lakhani S</searchLink>; Department of neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, 10065, USA.<br /><searchLink fieldCode="AU" term="%22Nangia+S%22">Nangia S</searchLink>; Department of Pediatrics, Division of Child Neurology, New York Presbyterian Hospital-Weill Cornell Medical Center, New York, NY, 10032, USA.<br /><searchLink fieldCode="AU" term="%22Gilissen+C%22">Gilissen C</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Vermeulen+RJ%22">Vermeulen RJ</searchLink>; Department of Neurology, Maastricht University Medical Center, Maastricht, HX 6229, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Rouhl+RPW%22">Rouhl RPW</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Brunner+HG%22">Brunner HG</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Willemsen+MH%22">Willemsen MH</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Nadif+Kasri+N%22">Nadif Kasri N</searchLink>; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.
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