Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development
Smith, Richard S., Kenny, Connor J., Ganesh, Vijay, Jang, Ahram, Borges-Monroy, Rebeca, Partlow, Jennifer N., Hill, R. Sean, Shin, Taehwan +21 more·2018·Neuron
Cited by (160)
Items 101–160 of 160
- Longitudinal single-cell RNA sequencing of a neuroendocrine transdifferentiation model reveals transcriptional reprogramming in treatment-induced neuroendocrine prostate cancerFunda Sar, Hee Chul Chung, Yen‐Yi Lin, Dong Lin, Tunç Morova, Anne M. Haegert, Stanislav V. Volik, Robert H. Bell, Stéphane LeBihan, Doğancan Özturan et al. · 2026 · Genome Medicine
- De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivityKatrine M. Johannesen, Elena Gardella, Philip Kiær Ahring, Rikke Steensbjerre Møller · 2022 · European Journal of Medical Genetics
- Voltage-Gated Sodium Channels as Drug Targets in Epilepsy-Related Sodium ChannelopathiesEric R. Wengert, Raquel M. Miralles, Manoj K. Patel · 2024 · Springer eBooks
- Investigation of the development and evolution of the mammalian cerebrum using gyrencephalic ferretsMasanori Imamura, Mayuko Yoshino, Hiroshi Kawasaki · 2024 · European Journal of Cell Biology
- Gyrification Needs Correct Sodium Flux!Silvia Cappello · 2018 · Neuron
- Screening Biophysical Sensors and Neurite Outgrowth Actuators in Human Induced-Pluripotent-Stem-Cell-Derived NeuronsVaibhav P. Pai, Ben G. Cooper, Michael G. Levin · 2022 · Cells
- Neurodevelopmental disorders: 2023 updatePaulina Carriba, Nicola Lorenzón, Mara Dierssen · 2023 · Free Neuropathology
- Distinctive in vitro phenotypes in iPSC-derived neurons from patients with gain- and loss-of-function SCN2A developmental and epileptic encephalopathyMiaomiao Mao, Cristiana Mattei, Ben Rollo, Sean Byars, Claire Cuddy, Géza Berecki, Jacqueline Heighway, Svenja Pachernegg, Trevelyan R. Menheniott, Danielle Apted et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
- Emerging Gene-Based Pathways: Channelopathies (Epilepsy and Beyond)Alfred L. George · 2025 · Elsevier eBooks
- Toward precision medicine in SCN3A variants-associated encephalopathies and epilepsy: optimizing genetic diagnosis and molecular subregional effectsPeng‐Yu Wang, Jia-Xing Zhao, Wen-hui Liu, Chen Yong-jun, Hong-Wei Wang · 2026 · Frontiers in Neurology
- The sodium channel SCN2A regulates cortical excitatory and inhibitory neurogenesisJarryll A. Uy, Zahra Dargaei, Sarah Geahchan, Laura Botler, Yi Pan, Chad O. Brown, Jennifer Howe, Stephen W. Scherer, Jaideep Singh Bains, Karun Kar Singh · 2026 · Nature Communications
- Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 SyndromeMelody P. Lun, Morgan L. Shannon, Sevgi Keleş, İsmail Reisli, Nicole M. Luche, Douglas Ryan, Kelly Capuder, Luigi Daniele Notarangelo, Maria K. Lehtinen · 2019 · American Journal Of Pathology
- The Promising Epigenetic Regulators for Refractory Epilepsy: An Adventurous Road AheadVemparthan Suvekbala, Haribaskar Ramachandran, Alaguraj Veluchamy, MarianoAnto Bruno-Mascarenhas, Tharmarajan Ramprasath, M. K. C. Nair, Venkata Naga Srikanth Garikipati, Rohit Gundamaraju, Subbiah Ramasamy · 2022 · NeuroMolecular Medicine
- PACS2 pathogenic variant associated with malformation of cortical development and epilepsyRayann Checri, Blandine Dozières‐Puyravel, Monique Elmaleh, Alain Verloès, Stéphane Auvin · 2023 · Epileptic Disorders
- Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 GeneElena Parrini, Simona Balestrini, Domenico Rutigliano, Maria Luisa Ricci, Davide Mei, Renzo Guerrini · 2024 · American Journal of Medical Genetics Part A
- Pharmacological targeting and characterization of Voltage-Gated Sodium Channels (VGSCs) expressed in the high-grade glioma microenvironmentEmily V. Fletcher, Chloé Shard, Yasmin Boyle, Carol J. Milligan, Ryan Stanley Cross, Anya C. Jones, Abbie Francis, Brittany Dewdney, Matt Barker, Sara Rezaeiravesh et al. · 2025 · BMC Cancer
- In vivo adenine base editing ameliorates Dravet syndrome phenotypes in a mouse modelAndrew T. Nelson, Sophie F Hill, Matthew Simon, Jérôme Clatot, Holt A. Sakai, Jun Xie, Alexander A. Sousa, Meirui An, Guangping Gao, Cathleen M. Lutz et al. · 2026 · Science Translational Medicine
- Polymicrogyria with Dysmorphic Neurons in a Patient with SCN2A MutationA. Gélot, Thomas Courtin, Chiara Siléo, Boris Keren, Yohan Sorèze, Sandra Whalen, Alfonso Represa · 2022 · Journal of Neuropathology & Experimental Neurology
- Neurodevelopmental disorder in a patient with HMBS and SCN3A variants—A possibly blended phenotype further delineating autosomal recessive HMBS related diseaseMagdalena Kłaniewska, Małgorzata Rydzanicz, Joanna Bladowska, Agnieszka Borys-Iwanicka, Katarzyna Iwanicka‐Pronicka, R Wasilewski, Edyta Odnoczko, Agnieszka Zubkiewicz‐Kucharska, Robert Stanisław Śmigiel, Rafał Płoski · 2024 · American Journal of Medical Genetics Part A
- Neurogenesis of Cerebral Cortex Projection NeuronsRobert F. Hevner · 2022 · Springer eBooks
- Neuron-Cancer Synaptic and Other Electrical SignalingHumsa S. Venkatesh · 2023 · Springer eBooks
- Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohortIrma E. Järvelä, Ritva Paetau, Yasmin Rajendran, Anushree Acharya, Thashi Bharadwaj, Suzanne M. Leal, Anna‐Elina Lehesjoki, Maarit Palomäki, Isabelle Schrauwen · 2024 · Brain Communications
- SCN2A developmental and epileptic encephalopathy in an infant with bilateral polymicrogyria and opercular dysplasiaJoana Sa de Almeida, Joël Fluss, Méryle Laurent, Lina Quteineh, Christian M. Korff, Stéphanie Garcia-Tarodo · 2024 · Brain and Development Case Reports
- Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathiesSopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg Hammer, Ingo Borggraefe, Roberto Horacio Caraballo, Sebahattin Çırak, Alberto Espeche et al. · 2026 · Epilepsia
- RNA targeting therapy for a prenatally enriched potassium channel associated with severe childhood epilepsy and premature deathSean R Golinski, Karla Soriano, Alex C. Briegel, Madeline C. Burke, Sheng Tang, Gemma L. Carvill, Emma Sherrill, Claudia Lentucci, Timothy W. Yu, Tojo Nakayama et al. · 2026 · Nature Communications
- Molecular determinants of functional voltage‐gated sodium (Nav) channel diversity in mammalian central neuronsJoseph L. Ransdell, Jeanne M. Nerbonne · 2026 · The Journal of Physiology
- Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?Michal M. Andelman‐Gur, Richard Jacob Leventer, Mohammad Hujirat, Christos Ganos, Keren Yosovich, Nirit Carmi, Dorit Lev, Andreea Nissenkorn, William B. Dobyns, Kailash P. Bhatia et al. · 2020 · American Journal of Medical Genetics Part A
- Role for the Na + /K + ATPase pump alpha 3 ( ATP1A3 ) subunit in folding and lamination of the human neocortexRichard S. Smith, Marta Florio, Shyam K. Akula, Jennifer N. Partlow, Yidi Wang, R. Sean Hill, Melissa Goldman, Christopher D. Mullally, Nora M. Reed, Luis Bello-Espinosa et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
- Screening Biophysical Sensors and Actuators that Influence Wound Healing in Human Induced Pluripotent Stem Cell-Derived NeuronsVaibhav P. Pai, Ben Cooper, Michaelk Levin · 2022 · Preprints.org
- Loss or Gain of Function? Effects of Ion Channel Mutations on Neuronal Firing Depend on the Cell TypeNils A. Koch, Lukas Sonnenberg, Ulrike B. S. Hedrich, Stephan Lauxmann, Jan Benda · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
- Neuronal lineage tracing from progenitors in human cortical organoids reveals novel mechanisms of human neuronal production, diversity, and diseaseLuke A. D. Bury, Shuai Fu, Anthony J. Wynshaw-Boris · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
- Intermediate Progenitors in Neocortical Development and EvolutionRobert F. Hevner · 2023
- Gene therapy for targeting a prenatally enriched potassium channel associated with severe childhood epilepsy and premature deathSean R Golinski, Karla Soriano, Alex C. Briegel, Madeline Burke, Timothy W. Yu, Tojo Nakayama, Ruing Hu, Richard S. Smith · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
- Electroactive Materials for Tissue EngineeringTeresa Marques‐Almeida, Estela O. Carvalho, Unai Silván, Senentxu Lanceros-Méndez, Clarisse Ribeiro · 2024
- Biophysical basis for brain folding and misfolding patterns in ferrets and humansGary P. T. Choi, Chunzi Liu, Sifan Yin, Gabrielle M. Sejourne, Richard S. Smith, Christopher A. Walsh, L. Mahadevan · 2025 · eLife
- Biophysical basis for brain folding and misfolding patterns in ferrets and humansGary P. T. Choi, Chunzi Liu, Sifan Yin, Gabrielle M. Sejourne, Richard S. Smith, Christopher A. Walsh, L. Mahadevan · 2025 · eLife
- Selective Activation of Na V 1.3 Restores Lymphatic Contractility in Age and InjuryKatarina J. Ruscic, Reetu Singh, Lingshan Liu, Marla Marquez, Johanna J. Rajotte, Pinji Lei, Olivia D. Miller, Brian J. Kinsman, Meghan J. O’Melia, Dhruv Singhal et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
- Pannexin-1 regulates cellular identity and excitability in the developing cortexNorma K. Hylton, David J Kang, Steven C. Decker, David Exposito-Alonso, Christie N Cambridge, Sean R Golinski, Karla Soriano, Madeline C. Burke, Ximena Gómez-Maqueo, Qiurui Chen et al. · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
- Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromesJannis Buecking, Baran E. Güler, Michael Eibl, Azmal Syed Ali, Tobias Walczuch, Tobias Beschauner, Susanne Theiß, Melanie Spanjaard, Katrin Hinderhofer, Freya Herrmann-Sim et al. · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
- The Role of the Voltage Gated Sodium Channel Gene Scn1b in Neuronal Excitability and Network SynchronyJacob M. Hull · 2019 · Deep Blue (University of Michigan)
- Spectrum of Neuroimaging Findings in Febrile Infection-related Epilepsy Syndrome (FIRES) - a National Specialist Center StudySundip D Udani · 2020
- Neurogenesis of Cerebral Cortex Projection NeuronsRobert F. Hevner · 2022 · Springer eBooks
- A hyperthermic seizure unleashes a surge of spreading depolarizations in Scn1a deficient miceIsamu Aiba, Yao Yu Ning, Jeffrey L. Noebels · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
- Multi-omics approach reveals dysregulated genes during hESCs neuronal differentiation exposure to paracetamolMari Spildrejorde, ATHINA A. SAMARA, Ankush Sharma, Magnus Leithaug, Martin Falck, Stefania Modafferi, Arvind Y. M. Sundaram, Ganesh Acharya, Hedvig Nordeng, Ragnhild Eskeland et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
- Discovery of maslinic acid being a Nav1.7 inhibitor with analgesic efficacy in rodent pain modelsShao‐Xing Dai, Osafo Raymond Kwaku, Yanyan Wang, Jia‐Yao Xiang, Jing-Yao Gao, Ji-Hao Liang, Sanjun Zhao, Gong-Wu Wang, Min Xu · 2023 · Research Square
- Investigation of the Mechanisms Underlying the Development and Evolution of the Cerebral Cortex Using Gyrencephalic FerretsYohei Shinmyo, Hiroshi Kawasaki · 2023 · Wiley eBooks
- Emerging neurodevelopmental mechanisms in patient induced pluripotent stem cells-derived spheroids modelling SCN1A Dravet SyndromeCristiana Mattei, Miaomiao Mao, Sean Byars, Erlina S. Mohamed Syazwan, Megan Oliva, Timothy J Karle, Kay Richards, Ingrid Eileen Scheffer, Steven Petrou, Snezana Maljevic · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
- Neuronal Hyperactivity in Neurons Derived from Individuals with Grey Matter HeterotopiaFrancesco Di Matteo, Rebecca Bonrath, Hanna Schmidt, Ane Cristina Ayo Martin, Veronica M. Pravatà, Rossella Di Giaimo, Danusa Menegaz, Stephan Riesenberg, Femke M. S. de Vrij, Giuseppina Maccarrone et al. · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
- Biophysical basis for brain folding and misfolding patterns in ferrets and humansGary P. T. Choi, Chunzi Liu, Sifan Yin, Gabrielle M. Sejourne, Richard S. Smith, Christopher A. Walsh, L. Mahadevan · 2025 · eLife
- Prenatal sodium channel dysfunction in Dravet syndrome alters cortical developmentClara Zourray, James Mills, James Dominic Mills, Martina Mainardi, James Street, Joanna Bartkiewicz, Simeon R. Mihaylov, Jacopo Sartorelli, Nathanael O’Neill, Jenna Carpenter et al. · 2025 · Research Square
- Epilepsy GeneticsMaria Roberta Cilio, Evelina Carapancea, Tristan T. Sands · 2024 · Elsevier eBooks
- Biophysical basis for brain folding and misfolding patterns in ferrets and humansGary P. T. Choi, Chunzi Liu, Sifan Yin, Gabrielle M. Sejourne, Richard S. Smith, Christopher A. Walsh, L. Mahadevan · 2025 · eLife
- Additional file 1 of Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brainLindsay Liang, Siavash Fazel Darbandi, Sirisha Pochareddy, Forrest O. Gulden, Michael C. Gilson, Brooke K. Sheppard, Atehsa Sahagun, Joon‐Yong An, Donna M. Werling, John L.R. Rubenstein et al. · 2021 · Figshare
- Additional file 4 of Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brainLindsay Liang, Siavash Fazel Darbandi, Sirisha Pochareddy, Forrest O. Gulden, Michael C. Gilson, Brooke K. Sheppard, Atehsa Sahagun, Joon‐Yong An, Donna M. Werling, John L.R. Rubenstein et al. · 2021 · Figshare
- Additional file 1 of Cortical and subcortical morphological alteration in Angelman syndromeDu, Xiaonan, Wei, Lei, Baofeng Yang, Long, Shasha, Wang, Ji, Sun, Aiqi, Jiang, Yonghui, Qiao, Zhongwei, Wang, He, Yi Wang · 2024 · Figshare
- The Role of Ion Channels in the Development of the Nervous SystemAlexandr D. Okhalnikov, J. M. Kovriga, Victor S. Tarabykin, Maria S. Gavrish · 2025 · Neurochemical Journal
- Neonatal-onset epileptic encephalopathy with lissencephaly associated with a SCN3A variant: The first case in Korea and literature reviewHyun A Lee, Seong Wan Kim, Seoheui Choi, Jang Hoon Lee, Moon Sung Park, Rita Miyoung Yu, Yoong-a Suh · 2026 · Seizure
- Diverse Genetic Etiologies of Unilateral PolymicrogyriaAbbe Lai, Jennifer N. Partlow, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Marie R. Bergin, Roberto Horacio Caraballo, Allen Y. Chen, John N. Gaitanis, Ganeshwaran H. Mochida et al. · 2026 · Annals of Neurology
- Disrupted inhibitory interneuron development in SCN1A Dravet syndrome revealed by patient‐derived subpallial organoidsCristiana Mattei, Miaomiao Mao, Sean Byars, Erlina S. Mohamed Syazwan, Megan Oliva, Timothy J Karle, Kay Richards, Ingrid Eileen Scheffer, Steven Petrou, Snezana Maljevic · 2026 · Epilepsia
- Hippocampal malformation in Dravet syndromeNishad Esdor Okutoyi, Vaibhav Maru, David W. Nauen · 2026 · Epilepsia