KCNC2 variants of uncertain significance are also associated to various forms of epilepsy by Simone Seiffert, Simone Seiffert, Manuela Pendziwiat, Manuela Pendziwiat, Ulrike B. S. Hedrich, Ingo Helbig, Ingo Helbig, Ingo Helbig, Ingo Helbig, Ingo Helbig, Yvonne Weber, Yvonne Weber, Niklas Schwarz

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“Living with” CACNA1A-related hemiplegic migraine, a disease concept model by Donna Schaare, Donna Schaare, Donna Schaare, Kendra Allison, Kara Skorge, Pangkong Fox, Laina Lusk, Laina Lusk, Sara M. Sarasua, Ingo Helbig, Ingo Helbig, Ingo Helbig, Luigi Boccuto

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Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus by Danielle deCampo, Danielle deCampo, Danielle deCampo, Julie Xian, Julie Xian, Julie Xian, Alexis Karlin, Alexis Karlin, Alexis Karlin, Katie R. Sullivan, Katie R. Sullivan, Katie R. Sullivan, Sarah M. Ruggiero, Sarah M. Ruggiero, Sarah M. Ruggiero, Peter Galer, Peter Galer, Peter Galer, Mark Ramos, Nicholas S. Abend, Nicholas S. Abend, Nicholas S. Abend, Alex Gonzalez, Ingo Helbig, Ingo Helbig, Ingo Helbig, Ingo Helbig, Ingo Helbig

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P347: RareResolve: Gene-humanized animal models for resolving pathogenicity in variants of uncertain significance (VUS) by Christopher Hopkins, Trisha Brock, Kathryn McCormick, Ingo Helbig, Matthew Bainbridge

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P151: Enhancing understanding of SCN1A-related disorders through phenotype harmonization* by Anna Prentice, Stacey Cohen, Sarah McKeown, Jan Magielski, Arjun Pillai, Michael Kaufman, Laura Conway, Ingo Helbig

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Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance by Christopher E. Hopkins, Kathryn McCormick, Trisha Brock, Matthew Wood, Sarah Ruggiero, Kolt Mcbride, Christine Kim, Jennifer A. Lawson, Ingo Helbig, Matthew N. Bainbridge

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Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals by Ludovica Montanucci, David Lewis-Smith, Ryan L. Collins, Lisa-Marie Niestroj, Shridhar Parthasarathy, Julie Xian, Shiva Ganesan, Marie Macnee, Tobias Brünger, Rhys H. Thomas, Michael Talkowski, Epi25 Collaborative, Ingo Helbig, Costin Leu, Dennis Lal

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Leveraging electronic medical record-embedded standardised electroencephalogram reporting to develop neonatal seizure prediction models: a retrospective cohort study by Jillian L McKee, MD, Michael C Kaufman, MS, Alexander K Gonzalez, MS, Mark P Fitzgerald, MD, Shavonne L Massey, MD, France Fung, MD, Sudha K Kessler, MD, Stephanie Witzman, BA, Nicholas S Abend, ProfMD, Ingo Helbig, MD

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A disease concept model for STXBP1‐related disorders by Katie R. Sullivan, Sarah M. Ruggiero, Julie Xian, Kim M. Thalwitzer, Rahma Ali, Sydni Stewart, Mahgenn Cosico, Jackie Steinberg, James Goss, Anna C. Pfalzer, Kyle J. Horning, Nicole Weitzel, Sydney Corey, Laura Conway, Charlene Son Rigby, Terry Jo Bichell, Ingo Helbig

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Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy by Borislav Dejanovic, Tania Djémié, Nora Grünewald, Arvid Suls, Vanessa Kress, Florian Hetsch, Dana Craiu, Matthew Zemel, Padhraig Gormley, Dennis Lal, EuroEPINOMICS Dravet working group, Candace T Myers, Heather C Mefford, Aarno Palotie, Ingo Helbig, Jochen C Meier, Peter De Jonghe, Sarah Weckhuysen, Guenter Schwarz

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Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons by Chad R. Camp, Anna Vlachos, Chiara Klöckner, Ilona Krey, Tue G. Banke, Nima Shariatzadeh, Sarah M. Ruggiero, Peter Galer, Kristen L. Park, Adam Caccavano, Sarah Kimmel, Xiaoqing Yuan, Hongjie Yuan, Ingo Helbig, Tim A. Benke, Johannes R. Lemke, Kenneth A. Pelkey, Chris J. McBain, Stephen F. Traynelis

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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders by Lydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens

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