SCN2A
Publications
Key Publications
Dedicated researchers from around the globe contribute to a growing body of scientific knowledge and understanding of SCN2A-related disorders. Many of these publications were made possible by support from The FamilieSCN2A Foundation and the families in the SCN2A community. With over 1,000 SCN2A publications to date, it can be overwhelming to know where to begin. The FamilieSCN2A Foundation has selected some of the most critical works in the field, including comprehensive reviews, groundbreaking genetic advances, and research roadmaps. Most importantly, a growing number of publications are coming out of insights learned directly from patients and families. Families who participate in patient registries, natural history studies, and research projects like the Clinical Trial Readiness Study help document what it is like to live with SCN2A-related disorders. This knowledge is critical for patient-centered drug development efforts.
Top Picks!
These pivotal publications provide the most up-to-date and comprehensive reviews of SCN2A-related disorders, as well as efforts toward treatment development. Anyone who is new to learning about SCN2A-related disorders should start here.
SCN2A-Related Disorders – Elements in Genetics in Epilepsy
Edited by Alfred L. George, Jr.
Megan Abbott, Kevin J. Bender, Andreas Brunklaus, Scott Demarest, Shawn Egan, Isabel Haviland, Jennifer A. Kearney, Leah Schust Myers, Heather E. Olson, Stephan J. Sanders, Christina SanInocencio, Joseph Symonds, Christopher H. Thompson, Alfred L. George, Jr.
Cambridge Elements, 2024
Comprehensive and in-depth review of the state of knowledge about SCN2A-related disorders, including:
- Clinical features
- Pathophysiology
- Genetics
- Scientific model systems
- Treatment
Written for families, clinicians, researchers, and students. Companion guide written for those without scientific knowledge.
Serena Tamura, Andrew D. Nelson, Perry W. E. Spratt, Elizabeth C. Hamada, Xujia Zhou, Henry Kyoung, Zizheng Li, Coline Arnould, Vladyslav Barskyi, Beniamin Krupkin, Kiana Young, Jingjing Zhao, Stephanie S. Holden, Atehsa Sahagun, Caroline M. Keeshen, Congyi Lu, Roy Ben-Shalom, Sunrae E. Taloma, Selin Schamiloglu, Ying C. Li, Lia Min, Paul M. Jenkins, Jen Q. Pan, Jeanne T. Paz, Stephan J. Sanders, Navneet Matharu, Nadav Ahituv & Kevin J. Bender
From press release:
“Preclinical proof-of-concept data demonstrating that CRISPR activation restores SCN2A expression and ameliorates disease-related phenotypes in mouse and human models of SCN2A-haploinsufficiency. The study, published today in Nature, represents a major advance for the treatment of SCN2A-haploinsufficiency, one of the most common genetic causes of neurodevelopmental disorders and early-onset epilepsy.”
A Patient Organization Perspective: Charting the Course To a Cure For SCN2A-Related Disorders
Leah F. Schust, Jennifer Burke, Christina SanInocencio, Brad A. Bryan, Karen S. Ho, Shawn M. Egan.
Therapeutic Advances in Rare Disease, 2024
Detailed roadmap of FamilieSCN2A Foundation efforts in the quest for a cure, including:
- Overview of SCN2A and SCN2A-related disorders
- Landscape of current SCN2A research
- FamilieSCN2A foundation strategic plan
- Strategic capital deployment and ROI analysis
- Gaps to a cure
- Future goals
Written for families, clinicians, researchers, and students.
Genetic and Phenotypic Heterogeneity Suggest Therapeutic Implications in SCN2A-Related Disorders
Anne T. Berg, Christopher H. Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela JE Kaiser, Katherine Paltell, Amanda N Nili, Jean-Marc L DeKeyser, Tatiana V Abramova, Gerry Nesbitt, Shawn M Egan, Carlos G Vanoye, Alfred L George, Jr.
Brain, 2024
Deep exploration of genetic variants (genotype) and clinical presentation (phenotype) of SRDs with and without epilepsy. Includes analysis of response to sodium channel blocker treatment.
“This study represents a unique collaboration between a family advocacy group-sponsored endeavour to understand clinical phenotypes and a large US National Institutes of Health-funded project with the primary aims of determining the functional impacts of ion channel variants.”
Written for clinicians and researchers.
Patient-Centered Research Contributes to Scientific Knowledge
The FamilieSCN2A Foundation supports critical research efforts through funding, recruiting, and consulting to ensure the patient voice is fully represented in study design. These publications represent findings from research involving people with SCN2A-related disorders and their caregivers, including participants in the Dragonfly patient registry, the Clinical Trial Readiness Study, the Inchstone Project, and Simons Searchlight natural history studies.
Dragonfly Study - International SCN2A Patient Registry
FamilieSCN2A Foundation and the SCN2A Community
Poster: Initial analyses of the first 150 enrollees
Clinical Trial Readiness Study
Anne T. Berg, Aaron J. Kaat, Katherine Paltell, Ariela JE Kaiser, Amanda Nili, Lindsey Evans, Erica L. Anderson, Gerry Nesbitt, and Leah S. Myers.
Neurology: Clinical Practice, 2025
Anne T. Berg, Amanda N. Nili, Lindsey Evans, Katherine C. Paltell, Ariela JE Kaiser, Erica L. Anderson, Shawn M. Egan, Aaron J. Kaat, Gerry Nesbitt, and Leah S. Myers.
Neurology: Clinical Practice, 2025
Gunes Sevinc, Kari Knox, Michelle George, Lindsey Evans, Ariela Kaiser, Katherine Charlotte Paltell, Leah Schust Myers, Natasha N. Ludwig, Mary Wojnaroski, Gabrielle Conecker, JayEtta Hecker, Jenny Downs, Chere A.T. Chapman, Anne T. Berg
Value in Health, 2025
Aaron Kaat, Lindsey Evans, Amanda N. Nili, Katherine Paltell, Arielle Kaiser, Erica Anderson, Leah Schust Myers, and Anne T. Berg.
Journal of Child and Adolescent Psychopharmacology, 2025
Other Patient-Centered Research
Jenny Downs, Natasha N. Ludwig, Mary Wojnaroski, Jessica Keeley, Leah Schust Myers, Chere AT Chapman, JayEtta Hecker, Gabrielle Conecker, and Anne T. Berg.
Quality of Life Research, 2024
Natasha N. Ludwig, Mary Wojnaroski, Stacy J. Suskauer, Beth S. Slomine, Ariela Kaiser, Katherine Paltell, Lindsey Evans, Karis Tucker, Chere A.T. Chapman, Gabrielle Conecker, JayEtta Hecker, Leah Schust Myers, Jenny Downs, Anne T. Berg
Epilepsy & Behavior, 2024
Stacey R. Cohen, Ingo Helbig, Michael C. Kaufman, Leah Schust Myers, Laura Conway, and Katherine L. Helbig.
Developmental Medicine & Child Neurology, 2022
Anne T. Berg, Hannah Palac, Greta Wilkening, Frank Zelko, and Leah Schust Myers.
Epilepsia, 2021
Genetics, Clinical Presentation, and Treatment Implications
These publications describe research into the impact of how genetic variants (genotype) influence how people feel and function (phenotype). Having a better understanding of the genotype/phenotype relationship can lead to better clinical care, and help guide future treatment options.
Anne T. Berg, Christopher H. Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela JE Kaiser, Katherine Paltell, Amanda N Nili, Jean-Marc L DeKeyser, Tatiana V Abramova, Gerry Nesbitt, Shawn M Egan, Carlos G Vanoye, Alfred L George, Jr.
Brain, 2024
Andreas Brunklaus, Tony Feng, Tobias Brünger, Eduardo Perez-Palma, Henrike Heyne, Emma Matthews, Christopher Semsarian, Joseph D. Symonds,Sameer M. Zuberi, Dennis Lal, Stephanie Schorge
Brain, 2022
Katherine Crawford, Julie Xian, Katherine L. Helbig, Peter D. Galer, Shridhar Parthasarathy, David Lewis-Smith, Michael C. Kaufman, Eryn Fitch, Shiva Ganesan, Margaret O’Brien, Veronica Codoni, Colin A. Ellis, Laura J. Conway, Deanne Taylor, Roland Krause, Ingo Helbig
Genetics in Medicine, 2021
F. Kyle Satterstrom, Jack A. F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang, Michael S. Breen, Silvia De Rubeis, Joon-Yong An, Minshi Peng, Ryan Collins, Jakob Grove, Lambertus Klei, Christine Stevens, Jennifer Reichert, Maureen S Mulhern, Mykyta Artomov, Sherif Gerges, Brooke Sheppard, Xinyi Xu, Aparna Bhaduri, Utku Norman, Harrison Brand, Grace Schwartz, Rachel Nguyen, Elizabeth E Guerrero, Caroline Dias; Autism Sequencing Consortium; iPSYCH-Broad Consortium; Catalina Betancur, Edwin H Cook, Louise Gallagher, Michael Gill, James S Sutcliffe, Audrey Thurm, Michael E Zwick, Anders D Børglum, Matthew W State, A Ercument Cicek, Michael E Talkowski, David J Cutler, Bernie Devlin, Stephan J Sanders, Kathryn Roeder, Mark J Daly, Joseph D Buxbaum
Cell, 2020
Wolff, Markus, Andreas Brunklaus, Sameer M. Zuberi.
Epilepsia, 2019
Jonathan Goldstein, David A. Ross, Daniel Moreno De Luca.
Biological Psychiatry, 2019
Stephan J. Sanders, Arthur J. Campbell, Jeffrey R. Cottrell, Rikke S. Moller, Florence F. Wagner, Angie L. Auldridge, Raphael A. Bernier, William A. Catterall, Wendy K. Chung, James R. Empfield, Alfred L. George, Jr, Joerg F. Hipp, Omar Khwaja, Evangelos Kiskinis, Dennis Lal, Dheeraj Malhotra, John J. Millichap, Thomas S. Otis, Steven Petrou, Geoffrey Pitt, Leah F. Schust, Cora M. Taylor, Jennifer Tjernagel, John E. Spiro, Kevin J. Bender
Trends in Neurosciences, 2018
Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot-Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, Maria J. Miranda, Maja Hempel, Eva Brilstra, Nine Knoers, Nienke Verbeek, Marjan van Kempen, Kees P. Braun, Grazia Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily Wong-Kisiel, Friedrich M. Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G. Thoene, Daniel H. Arndt, Nicolas Deconinck, Thomas Schmitt-Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, Claudio Finetti, Reinhard Brückner, Joachim Pietz, Günther Golla, Dinesh Jillella, Karen M. Linnet, Perrine Charles, Ute Moog, Eve Õiglane-Shlik, John F. Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, G. Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L. Helbig, Katia Hardies, Hannah Stamberger, Peter de Jonghe, Sarah Weckhuysen, Johannes R. Lemke, Ingeborg Krägeloh-Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S Møller
Brain, 2017
Ingo Helbig
Beyond the Ion Channel, 2014
SCN2A-Related Resources
FamilieSCN2A creates and curates resources from trusted partners to help families thrive and to inform clinicians, teachers, and other professionals involved in the care of those affected by SCN2A-related disorder
Current Research Opportunities
If you are interested in participating in research to help find treatments and cures for SCN2A-related disorders, please review the current research projects. These projects move us closer to understanding this complex sodium ion channel disorder and closer to improving treatments and finding cures. Participation in research is always voluntary.