Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Authors: Happ, Hannah C., Sadleir, Lynette G., Zemel, Matthew, de Valles-Ibáñez, Guillem, Hildebrand, Michael S., McConkie-Rosell, Allyn, McDonald, Marie, May, Halie, Sands, Tristan, Aggarwal, Vimla, Elder, Christopher, Feyma, Timothy, Bayat, Allan, Møller, Rikke S., Fenger, Christina D., Klint Nielsen, Jens Erik, Datta, Anita N., Gorman, Kathleen M., King, Mary D., Linhares, Natalia D., Burton, Barbara K., Paras, Andrea, Ellard, Sian, Rankin, Julia, Shukla, Anju, Majethia, Purvi, Olson, Rory J., Muthusamy, Karthik, Schimmenti, Lisa A., Starnes, Keith, Sedláčková, Lucie, Štěrbová, Katalin, Vlčková, Markéta, Laššuthová, Petra, Jahodová, Alena, Porter, Brenda E., Couque, Nathalie, Colin, Estelle, Prouteau, Clément, Collet, Corinne, Smol, Thomas, Caumes, Roseline, Vansenne, Fleur, Bisulli, Francesca, Licchetta, Laura, Person, Richard, Torti, Erin, McWalter, Kirsty, Webster, Richard, Gerard, Elizabeth E., Lesca, Gaetan, Szepetowski, Pierre, Scheffer, Ingrid E., Mefford, Heather C., Carvill, Gemma L.

Source: Neurology. 100(6):e603-e615

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185420273.0x000001&indx=1&recIds=ETOCvdc_100185420273.0x000001

Epilepsy features in ARID1B‐related Coffin‐Siris syndrome

Authors: Proietti, Jacopo, Amadori, Elisabetta, Striano, Pasquale, Ricci, Emilia, Cordelli, Duccio Maria, Bana, Cristina, Dilena, Robertino, Gardella, Elena, Klint Nielsen, Jens Erik, Pisani, Francesco, Lo Barco, Tommaso, Fiorini, Elena, Fontana, Elena, Darra, Francesca, Dalla Bernardina, Bernardo, Cantalupo, Gaetano

Source: Epileptic Disorders; December 2021, Vol. 23 Issue: 6 p865-874, 10p