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Select item 110096341.

Pathogenic gating pore current conducted by autism-related mutations in the Na_V1.2 brain sodium channel

Ahmed Eltokhi, Brian Nils Lundstrom, Jin Li, Larry S. Zweifel, William A. Catterall, Tamer M. Gamal El-Din

Proc Natl Acad Sci U S A. 2024 Apr 9; 121(15): e2317769121. Published online 2024 Apr 2. doi: 10.1073/pnas.2317769121

PMCID:: PMC11009634

Abstract Article PDF–2.9M

Select item 108836102.

Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy

Miaomiao Mao, Cristiana Mattei, Ben Rollo, Sean Byars, Claire Cuddy, Geza Berecki, Jacqueline Heighway, Svenja Pachernegg, Trevelyan Menheniott, Danielle Apted, Linghan Jia, Kelley Dalby, Alex Nemiroff, Saul Mullen, Christopher A. Reid, Snezana Maljevic, Steven Petrou

J Neurosci. 2024 Feb 21; 44(8): e0692232023. doi: 10.1523/JNEUROSCI.0692-23.2023

PMCID:: PMC10883610

Abstract Article PDF–3.4M

Select item 104244333.

Epilepsy-associated SCN2A (Na_V1.2) variants exhibit diverse and complex functional properties

Christopher H. Thompson, Franck Potet, Tatiana V. Abramova, Jean-Marc DeKeyser, Nora F. Ghabra, Carlos G. Vanoye, John J. Millichap, Alfred L. George, Jr

J Gen Physiol. 2023 Oct 2; 155(10): e202313375. Published online 2023 Aug 14. doi: 10.1085/jgp.202313375

PMCID:: PMC10424433

Abstract Article PDF–8.9M

Select item 102817464.

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons

R Asadollahi, I Delvendahl, R Muff, G Tan, D G Rodríguez, S Turan, M Russo, B Oneda, P Joset, P Boonsawat, R Masood, M Mocera, I Ivanovski, A Baumer, R Bachmann-Gagescu, R Schlapbach, H Rehrauer, K Steindl, A Begemann, A Reis, J Winkler, B Winner, M Müller, A Rauch

Hum Mol Genet. 2023 Jul 1; 32(13): 2192–2204. Published online 2023 Apr 3. doi: 10.1093/hmg/ddad048

PMCID:: PMC10281746

Abstract Article PDF–1.9M

Select item 100254255.

Protein interaction studies in human induced neurons indicate convergent biology underlying autism spectrum disorders

Greta Pintacuda, Yu-Han H. Hsu, Kalliopi Tsafou, Ka Wan Li, Jacqueline M. Martín, Jackson Riseman, Julia C. Biagini, Joshua K.T. Ching, Daya Mena, Miguel A. Gonzalez-Lozano, Shawn B. Egri, Jake Jaffe, August B. Smit, Nadine Fornelos, Kevin C. Eggan, Kasper Lage

Cell Genom. 2023 Mar 8; 3(3): 100250. Published online 2023 Jan 24. doi: 10.1016/j.xgen.2022.100250

PMCID:: PMC10025425

Abstract Article PDF–22M

Select item 98991976.

A Push–Pull Mechanism Between PRRT2 and β4-subunit Differentially Regulates Membrane Exposure and Biophysical Properties of NaV1.2 Sodium Channels

Pierluigi Valente, Antonella Marte, Francesca Franchi, Bruno Sterlini, Silvia Casagrande, Anna Corradi, Pietro Baldelli, Fabio Benfenati

Mol Neurobiol. 2023; 60(3): 1281–1296. Published online 2022 Nov 28. doi: 10.1007/s12035-022-03112-x

PMCID:: PMC9899197

Abstract Article PDF–1.6M

Select item 93676477.

Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population

Mansour A. Alghamdi, Laith N. AL-Eitan, Ashwag Asiri, Doaa M. Rababa’h, Sultan A. Alqahtani, Mohammed S. Aldarami, Manar A. Alsaeedi, Raghad S. Almuidh, Abdulbari A. Alzahrani, Ahmad H. Sakah, Eman Mohamad El Nashar, Mansour Y. Otaif, Nawal F. Abdel Ghaffar

Ann Med. 2022; 54(1): 1938–1951. Published online 2022 Jul 8. doi: 10.1080/07853890.2022.2096257

PMCID:: PMC9367647

Abstract Article PDF–1.2M

Select item 91519178.

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants

Géza Berecki, Katherine B. Howell, Jacqueline Heighway, Nelson Olivier, Jill Rodda, Isabella Overmars, Danique R. M. Vlaskamp, Tyson L. Ware, Simone Ardern-Holmes, Gaetan Lesca, Michael Alber, Pierangelo Veggiotti, Ingrid E. Scheffer, Samuel F. Berkovic, Markus Wolff, Steven Petrou

Commun Biol. 2022; 5: 515. Published online 2022 May 30. doi: 10.1038/s42003-022-03454-1

PMCID:: PMC9151917

Abstract Article PDF–5.1M

Select item 91097899.

Xiao-Ru Yang, Vamsi Krishna Murthy Ginjupalli, Olivier Theriault, Hugo Poulin, Juan Pablo Appendino, Ping Yee Billie Au, Mohamed Chahine

J Neurophysiol. 2022 May 1; 127(5): 1388–1397. Published online 2022 Apr 13. doi: 10.1152/jn.00309.2021

PMCID:: PMC9109789

Abstract Article

Select item 903466710.

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review

Giuseppe Donato Mangano, Antonina Fontana, Vincenzo Antona, Vincenzo Salpietro, Giuseppa Renata Mangano, Mario Giuffrè, Rosaria Nardello

Mol Genet Genomic Med. 2022 May; 10(5): e1911. Published online 2022 Mar 29. doi: 10.1002/mgg3.1911

PMCID:: PMC9034667

Abstract Article PDF–1.0M

Select item 861922411.

Pharmacological Inhibition of Wee1 Kinase Selectively Modulates the Voltage-Gated Na⁺ Channel 1.2 Macromolecular Complex

Nolan M. Dvorak, Cynthia M. Tapia, Timothy J. Baumgartner, Jully Singh, Fernanda Laezza, Aditya K. Singh

Cells. 2021 Nov; 10(11): 3103. Published online 2021 Nov 10. doi: 10.3390/cells10113103

PMCID:: PMC8619224

Abstract Article PDF–1.7M

Select item 844632612.

Enhanced slow inactivation contributes to dysfunction of a recurrent SCN2A mutation associated with developmental and epileptic encephalopathy

Surobhi Ganguly, Christopher H. Thompson, Alfred L. George, Jr.

J Physiol. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: J Physiol. 2021 Sep; 599(18): 4375–4388. Published online 2021 Aug 9. doi: 10.1113/JP281834

PMCID:: PMC8446326

Abstract Article PDF–2.1M

Select item 836418113.

Protein interaction landscapes revealed by advanced in vivo cross-linking–mass spectrometry

Andrew Wheat, Clinton Yu, Xiaorong Wang, Anthony M. Burke, Ilan E. Chemmama, Robyn M. Kaake, Peter Baker, Scott D. Rychnovsky, Jing Yang, Lan Huang

Proc Natl Acad Sci U S A. 2021 Aug 10; 118(32): e2023360118. Published online 2021 Aug 4. doi: 10.1073/pnas.2023360118

PMCID:: PMC8364181

Abstract Article PDF–3.0M

Select item 744949414.

Variable patterns of mutation density among Na_V1.1, Na_V1.2 and Na_V1.6 point to channel-specific functional differences associated with childhood epilepsy

Alejandra C. Encinas, Joseph C. Watkins, Iris Arenas Longoria, J. P. Johnson, Jr, Michael F. Hammer

PLoS One. 2020; 15(8): e0238121. Published online 2020 Aug 26. doi: 10.1371/journal.pone.0238121

PMCID:: PMC7449494

Abstract Article PDF–1.4M

Select item 741861215.

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort

Xinran Dong, Bo Liu, Lin Yang, Huijun Wang, Bingbing Wu, Renchao Liu, Hongbo Chen, Xiang Chen, Sha Yu, Bin Chen, Sujuan Wang, Xiu Xu, Wenhao Zhou, Yulan Lu

J Med Genet. 2020 Aug; 57(8): 558–566. Published online 2020 Jan 31. doi: 10.1136/jmedgenet-2019-106377

PMCID:: PMC7418612

Abstract Article PDF–1.5M

Select item 717786716.

Differential Inhibition of Human Nav1.2 Resurgent and Persistent Sodium Currents by Cannabidiol and GS967

Emily R. Mason, Theodore R. Cummins

Int J Mol Sci. 2020 Apr; 21(7): 2454. Published online 2020 Apr 1. doi: 10.3390/ijms21072454

PMCID:: PMC7177867

Abstract Article PDF–4.8M

Select item 706318617.

Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy

Yuan Lu, Quanping Su, Ming Li, Alimu Dayimu, Xiaoyu Dai, Zhiheng Wang, Fengyuan Che, Fuzhong Xue

Biomed Res Int. 2020; 2020: 8096235. Published online 2020 Feb 25. doi: 10.1155/2020/8096235

PMCID:: PMC7063186

Abstract Article PDF–609K

Select item 705485918.

Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants

Christopher H. Thompson, Roy Ben-Shalom, Kevin J. Bender, Alfred L. George, Jr.

J Gen Physiol. 2020 Mar 2; 152(3): e201912442. Published online 2020 Jan 29. doi: 10.1085/jgp.201912442

PMCID:: PMC7054859

Abstract Article PDF–2.5M

Select item 679555419.

Resurgent and Gating Pore Currents Induced by De Novo SCN2A Epilepsy Mutations

Emily R. Mason, Fenfen Wu, Reesha R. Patel, Yucheng Xiao, Stephen C. Cannon, Theodore R. Cummins

eNeuro. 2019 Sep-Oct; 6(5): ENEURO.0141-19.2019. Prepublished online 2019 Sep 26. Published online 2019 Oct 15. doi: 10.1523/ENEURO.0141-19.2019

PMCID:: PMC6795554

Abstract Article PDF–2.3M

Select item 674076320.

Sodium Channel β4, a New Disulfide-Linked Auxiliary Subunit with Similarity to β2

Frank H. Yu, Ruth E. Westenbroek, Inmaculada Silos-Santiago, Kimberly A. McCormick, Deborah Lawson, Pei Ge, Holly Ferriera, Jeremiah Lilly, Peter S. DiStefano, William A. Catterall, Todd Scheuer, Rory Curtis

J Neurosci. 2003 Aug 20; 23(20): 7577–7585. doi: 10.1523/JNEUROSCI.23-20-07577.2003