Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy
Smol Thomas Carvill Gemma L. Happ Hannah C. Sadleir Lynette G. de Valles-Ib¨￠?ez Guillem Hildebrand Michael S. McConkie-Rosell Allyn Nielsen Jens Erik Klint Datta Anita N. Gorman Kathleen M. King Mary D. Burton Barbara K. Rankin Julia Starnes Keith Sedl¨￠?kov¨￠ Lucie ?t¨§rbov¨￠ Katalin Jahodov¨￠ Alena Colin Estelle Licchetta Laura Person Richard Torti Erin Szepetowski Pierre Mefford Heather C. Porter Brenda E. Prouteau Cl¨|ment Vl?kov¨￠ Mark¨|ta Linhares Natalia Shukla Anju Scheffer Ingrid E. Couque Nathalie Olson Rory J. La??uthov¨￠ Petra Collet Corinne Muthusamy Karthik Elder Christopher Sands Tristan Fenger Christina D. McWalter Kirsty Feyma Timothy Webster Richard Paras Andrea Ellard Sian Bayat Allan May Halie Schimmenti Lisa A McDonald Marie M?ller Rikke S. Bisulli Francesca Caumes Roseline Zemel Matthew Majethia Purvi Vansenne Fleur Lesca Gaetan Aggarwal Vimla
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Smol Thomas,Carvill Gemma L.,Happ Hannah C.,Sadleir Lynette G.,de Valles-Ib¨￠?ez Guillem,Hildebrand Michael S.,McConkie-Rosell Allyn,Nielsen Jens Erik Klint,Datta Anita N.,Gorman Kathleen M.,King Mary D.,Burton Barbara K.,Rankin Julia,Starnes Keith,Sedl¨￠?kov¨￠ Lucie,?t¨§rbov¨￠ Katalin,Jahodov¨￠ Alena,Colin Estelle,Licchetta Laura,Person Richard,Torti Erin,Szepetowski Pierre,Mefford Heather C.,Porter Brenda E.,Prouteau Cl¨|ment,Vl?kov¨￠ Mark¨|ta,Linhares Natalia,Shukla Anju,Scheffer Ingrid E.,Couque Nathalie,Olson Rory J.,La??uthov¨￠ Petra,Collet Corinne,Muthusamy Karthik,Elder Christopher,Sands Tristan,Fenger Christina D.,McWalter Kirsty,Feyma Timothy,Webster Richard,Paras Andrea,Ellard Sian,Bayat Allan,May Halie,Schimmenti Lisa A,McDonald Marie,M?ller Rikke S.,Bisulli Francesca,Caumes Roseline,Zemel Matthew,Majethia Purvi,Vansenne Fleur,Lesca Gaetan,Aggarwal Vimla.Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy[EB/OL].(2025-03-28)[2025-12-13].https://www.medrxiv.org/content/10.1101/2022.04.26.22274147.学科分类
神经病学、精神病学/基础医学/医学研究方法
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