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收藏分享 收藏 Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5
Happ, Hannah C.; Sadleir, Lynette G.; Zemel, Matthew; de Valles-Ibanez, Guillem; Hildebrand, Michael S.; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Moller, 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; Sedlackova, Lucie; Sterbova, Katalin; Vlckova, Marketa; Lassuthova, Petra; Jahodova, Alena; Porter, Brenda E.; Couque, Nathalie; Colin, Estelle; Prouteau, Clement; 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. 分享 收藏 Response to treatment and outcomes of infantile spasms in Down syndromeHarvey, Susan; Allen, Nicholas M.; King, Mary D.; Lynch, Bryan; Lynch, Sally A.; O'Regan, Mary; O'Rourke, Declan; Shahwan, Amre; Webb, David; Gorman, Kathleen M. 分享 收藏 分享 收藏 4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathyHedrich, Ulrike B. S.; Lauxmann, Stephan; Wolff, Markus; Synofzik, Matthis; Bast, Thomas; Binelli, Adrian; Serratosa, Jose M.; Martinez-Ulloa, Pedro; Allen, Nicholas M.; King, Mary D.; Gorman, Kathleen M.; Ben Zeev, Bruria; Tzadok, Michal; Wong-Kisiel, Lily; Marjanovic, Dragan; Rubboli, Guido; Sisodiya, Sanjay M.; Lutz, Florian; Ashraf, Harshad Pannikkaveettil; Torge, Kirsten; Yan, Pu; Bosselmann, Christian; Schwarz, Niklas; Fudali, Monika; Lerche, Holger 分享 收藏 RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of ChildhoodZagaglia, Sara; Steel, Dora; Krithika, S.; Hernandez-Hernandez, Laura; Custodio, Helena Martins; Gorman, Kathleen M.; Vezyroglou, Aikaterini; Moller, Rikke S.; King, Mary D.; Hammer, Trine Bjorg; Spaull, Robert; Fazeli, Walid; Bartolomaeus, Tobias; Doummar, Diane; Keren, Boris; Mignot, Cyril; Bednarek, Nathalie; Cross, J. Helen; Mallick, Andrew A.; Sanchis-Juan, Alba; Basu, Anna; Raymond, F. Lucy; Lynch, Bryan J.; Majumdar, Anirban; Stamberger, Hannah; Weckhuysen, Sarah; Sisodiya, Sanjay M.; Kurian, Manju A. 分享 收藏 FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disabilityFBXO28导致发育性和癫痫性脑病，并伴有严重的智力障碍Schneider, Amy L.; Myers, Candace T.; Muir, Alison M.; Calvert, Sophie; Basinger, Alice; Perry, M. Scott; Rodan, Lance; Helbig, Katherine L.; Chambers, Chelsea; Gorman, Kathleen M.; King, Mary D.; Donkervoort, Sandra; Soldatos, Ariane; Bonnemann, Carsten G.; Spataro, Nino; Gabau, Elisabeth; Arellano, Montserrat; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rossignol, Elsa; Hamdan, Fadi F.; Michaud, Jacques L.; Balak, Christopher; Mefford, Heather C.; Scheffer, Ingrid E. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-DyskinesiaGorman, Kathleen M.; Meyer, Esther; Grozeva, Detelina; Spinelli, Egidio; McTague, Amy; Sanchis-Juan, Alba; Carss, Keren J.; Bryant, Emily; Reich, Adi; Schneider, Amy L.; Pressler, Ronit M.; Simpson, Michael A.; Debelle, Geoff D.; Wassmer, Evangeline; Morton, Jenny; Sieciechowicz, Diana; Jan-Kamsteeg, Eric; Paciorkowski, Alex R.; King, Mary D.; Cross, J. Helen; Poduri, Annapurna; Mefford, Heather C.; Scheffer, Ingrid E.; Haack, Tobias B.; McCullagh, Gary; Millichap, John J.; Carvill, Gemma L.; Clayton-Smith, Jill; Maher, Eamonn R.; Raymond, F. Lucy; Kurian, Manju A. 分享 收藏 分享 收藏 Catalogue of inherited disorders found among the Irish Traveller populationLynch, Sally Ann; Crushell, Ellen; Lambert, Deborah M.; Byrne, Niall; Gorman, Kathleen; King, Mary D.; Green, Andrew; O'Sullivan, Siobhan; Browne, Fiona; Hughes, Joanne; Knerr, Ina; Monavari, Ahmad A.; Cotter, Melanie; McConnell, Vivienne P. M.; Kerr, Bronwyn; Jones, Simon A.; Keenan, Catriona; Murphy, Nuala; Cody, Declan; Ennis, Sean; Turner, Jackie; Irvine, Alan D.; Casey, Jillian 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathiesMasnada, Silvia; Hedrich, Ulrike B. S.; Gardella, Elena; Schubert, Julian; Kaiwar, Charu; Klee, Eric W.; Lanpher, Brendan C.; Gavrilova, Ralitza H.; Synofzik, Matthis; Bast, Thomas; Gorman, Kathleen; King, Mary D.; Allen, Nicholas M.; Conroy, Judith; Ben Zeev, Bruria; Tzadok, Michal; Korff, Christian; Dubois, Fanny; Ramsey, Keri; Narayanan, Vinodh; Serratosa, Jose M.; Giraldez, Beatriz G.; Helbig, Ingo; Marsh, Eric; O'Brien, Margaret; Bergqvist, Christina A.; Binelli, Adrian; Porter, Brenda; Zaeyen, Eduardo; Horovitz, Dafne D.; Wolff, Markus; Marjanovic, Dragan; Caglayan, Hande S.; Arslan, Mutluay; Pena, Sergio D. J.; Sisodiya, Sanjay M.; Balestrini, Simona; Syrbe, Steffen; Veggiotti, Pierangelo; Lemke, Johannes R.; Moller, Rikke S.; Lerche, Holger; Rubboli, Guido 分享 收藏 分享 收藏 
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