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Select item 112657951.

Aberrant hippocampal Ca²⁺ microwaves following synapsin-dependent adeno-associated viral expression of Ca²⁺ indicators

Nicola Masala, Manuel Mittag, Eleonora Ambrad Giovannetti, Darik A O'Neil, Fabian J Distler, Peter Rupprecht, Fritjof Helmchen, Rafael Yuste, Martin Fuhrmann, Heinz Beck, Michael Wenzel, Tony Kelly

eLife. 2024; 13: RP93804. Published online 2024 Jul 23. doi: 10.7554/eLife.93804

PMCID:: PMC11265795

Abstract Article PDF–2.3M

Select item 109579242.

Experimental and computational evidence that Calpain-10 binds to the carboxy terminus of Na_V1.2 and Na_V1.6

Luis Manuel Arratia, Juan David Bermudes-Contreras, Jorge Armando Juarez-Monroy, Erik Alan Romero-Macías, Julio Cesar Luna-Rojas, Marisol López-Hidalgo, Ana Victoria Vega, Absalom Zamorano-Carrillo

Sci Rep. 2024; 14: 6761. Published online 2024 Mar 21. doi: 10.1038/s41598-024-57117-8

PMCID:: PMC10957924

Abstract Article PDF–4.0M

Select item 107577373.

Evaluating the interplay between estrous cyclicity and flurothyl-induced seizure susceptibility in Scn2a ^K1422E mice

Dennis M. Echevarria-Cooper, Jennifer A. Kearney

MicroPubl Biol. 2023; 2023: 10.17912/micropub.biology.000850. Published online 2023 Dec 16. doi: 10.17912/micropub.biology.000850

PMCID:: PMC10757737

Abstract Article PDF–670K

Select item 107556404.

Dynamic Foraging Behavior Performance Is Not Affected by Scn2a Haploinsufficiency

Selin Schamiloglu, Hao Wu, Mingkang Zhou, Alex C. Kwan, Kevin J. Bender

eNeuro. 2023 Dec; 10(12): ENEURO.0367-23.2023. Published online 2023 Dec 8. doi: 10.1523/ENEURO.0367-23.2023

PMCID:: PMC10755640

Abstract Article PDF–644K

Select item 103078525.

KCTD13-mediated ubiquitination and degradation of GluN1 regulates excitatory synaptic transmission and seizure susceptibility

Juan Gu, Pingyang Ke, Haokun Guo, Jing Liu, Yan Liu, Xin Tian, Zhuo Huang, Xin Xu, Demei Xu, Yuanlin Ma, Xuefeng Wang, Fei Xiao

Cell Death Differ. 2023 Jul; 30(7): 1726–1741. Published online 2023 May 4. doi: 10.1038/s41418-023-01174-5

PMCID:: PMC10307852

Abstract Article PDF–8.8M

Select item 102721396.

Kv7/KCNQ potassium channels in cortical hyperexcitability and juvenile seizure-related death in Ank2-mutant mice

Hyoseon Oh, Suho Lee, Yusang Oh, Seongbin Kim, Young Seo Kim, Yeji Yang, Woochul Choi, Ye-Eun Yoo, Heejin Cho, Seungjoon Lee, Esther Yang, Wuhyun Koh, Woojin Won, Ryunhee Kim, C. Justin Lee, Hyun Kim, Hyojin Kang, Jin Young Kim, Taeyun Ku, Se-Bum Paik, Eunjoon Kim

Nat Commun. 2023; 14: 3547. Published online 2023 Jun 15. doi: 10.1038/s41467-023-39203-z

PMCID:: PMC10272139

Abstract Article PDF–4.3M

Select item 101914417.

USP7 represses lineage differentiation genes in mouse embryonic stem cells by both catalytic and noncatalytic activities

Chao Liu, Lingang Sun, Yijun Tan, Qi Wang, Tao Luo, Chenlu Li, Nan Yao, Yuting Xie, Xiao Yi, Yi Zhu, Tiannan Guo, Junfeng Ji

Sci Adv. 2023 May; 9(20): eade3888. Published online 2023 May 17. doi: 10.1126/sciadv.ade3888

PMCID:: PMC10191441

Abstract Article PDF–2.4M

Select item 94337308.

Cellular and behavioral effects of altered Na_V1.2 sodium channel ion permeability in Scn2a^K1422E mice

Dennis M Echevarria-Cooper, Nicole A Hawkins, Sunita N Misra, Alexandra M Huffman, Tyler Thaxton, Christopher H Thompson, Roy Ben-Shalom, Andrew D Nelson, Anna M Lipkin, Alfred L George Jr, Kevin J Bender, Jennifer A Kearney

Hum Mol Genet. 2022 Sep 1; 31(17): 2964–2988. Published online 2022 Apr 13. doi: 10.1093/hmg/ddac087

PMCID:: PMC9433730

Abstract Article PDF–2.9M

Select item 90186179.

Deficiency of autism-related Scn2a gene in mice disrupts sleep patterns and circadian rhythms

Zhixiong Ma, Muriel Eaton, Yushuang Liu, Jingliang Zhang, Xiaoling Chen, Xinyu Tu, Yiqiang Shi, Zhefu Que, Kyle Wettschurack, Zaiyang Zhang, Riyi Shi, Yueyi Chen, Adam Kimbrough, Nadia A. Lanman, Leah Schust, Zhuo Huang, Yang Yang

Neurobiol Dis. Author manuscript; available in PMC 2023 Jun 15.

Published in final edited form as: Neurobiol Dis. 2022 Jun 15; 168: 105690. Published online 2022 Mar 14. doi: 10.1016/j.nbd.2022.105690

PMCID:: PMC9018617

Abstract Article PDF–2.0M

Select item 871964910.

Paradoxical hyperexcitability from Na_V1.2 sodium channel loss in neocortical pyramidal cells

Perry W.E. Spratt, Ryan P.D. Alexander, Roy Ben-Shalom, Atehsa Sahagun, Henry Kyoung, Caroline M. Keeshen, Stephan J. Sanders, Kevin J. Bender

Cell Rep. Author manuscript; available in PMC 2021 Dec 31.

Published in final edited form as: Cell Rep. 2021 Aug 3; 36(5): 109483. doi: 10.1016/j.celrep.2021.109483

PMCID:: PMC8719649

Abstract Article PDF–2.5M

Select item 863159911.

Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model

Melody Li, Nikola Jancovski, Paymaan Jafar-Nejad, Lisseth E. Burbano, Ben Rollo, Kay Richards, Lisa Drew, Alicia Sedo, Jacqueline Heighway, Svenja Pachernegg, Armand Soriano, Linghan Jia, Todd Blackburn, Blaine Roberts, Alex Nemiroff, Kelley Dalby, Snezana Maljevic, Christopher A. Reid, Frank Rigo, Steven Petrou

J Clin Invest. 2021 Dec 1; 131(23): e152079. Published online 2021 Dec 1. doi: 10.1172/JCI152079

PMCID:: PMC8631599

Abstract Article PDF–4.9M

Select item 848614312.

SCN2A contributes to oligodendroglia excitability and development in the mammalian brain

Elizabeth Gould, Jun Hee Kim

Cell Rep. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: Cell Rep. 2021 Sep 7; 36(10): 109653. doi: 10.1016/j.celrep.2021.109653

PMCID:: PMC8486143

Abstract Article PDF–2.2M

Select item 841005813.

Scn2a severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors

Hong-Gang Wang, Charlotte C. Bavley, Anfei Li, Rebecca M. Jones, Jonathan Hackett, Yared Bayleyen, Francis S. Lee, Anjali M. Rajadhyaksha, Geoffrey S. Pitt

JCI Insight. 2021 Aug 9; 6(15): e150698. Published online 2021 Aug 9. doi: 10.1172/jci.insight.150698

PMCID:: PMC8410058

Abstract Article PDF–1.8M

Select item 838231614.

Severe deficiency of the voltage-gated sodium channel Na_V1.2 elevates neuronal excitability in adult mice

Jingliang Zhang, Xiaoling Chen, Muriel Eaton, Jiaxiang Wu, Zhixiong Ma, Shirong Lai, Anthony Park, Talha S. Ahmad, Zhefu Que, Ji Hea Lee, Tiange Xiao, Yuansong Li, Yujia Wang, Maria I. Olivero-Acosta, James A. Schaber, Krishna Jayant, Chongli Yuan, Zhuo Huang, Nadia A. Lanman, William C. Skarnes, Yang Yang

Cell Rep. Author manuscript; available in PMC 2021 Aug 23.

Published in final edited form as: Cell Rep. 2021 Aug 3; 36(5): 109495. doi: 10.1016/j.celrep.2021.109495

PMCID:: PMC8382316

Abstract Article PDF–1.7M

Select item 831323915.

Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development

Francesco Bedogni, Robert F. Hevner

Front Mol Neurosci. 2021; 14: 686034. Published online 2021 Jul 12. doi: 10.3389/fnmol.2021.686034

PMCID:: PMC8313239

Abstract Article PDF–1.6M

Select item 803548216.

Kv1.1 deficiency alters repetitive and social behaviors in mice and rescues autistic‐like behaviors due to Scn2a haploinsufficiency

Jagadeeswaran Indumathy, April Pruitt, Nicole M. Gautier, Kaitlin Crane, Edward Glasscock

Brain Behav. 2021 Apr; 11(4): e02041. Published online 2021 Jan 23. doi: 10.1002/brb3.2041

PMCID:: PMC8035482

Abstract Article PDF–1.7M

Select item 793547017.

The autism-associated gene Scn2a contributes to dendritic excitability and synaptic function in prefrontal cortex

Perry WE Spratt, Roy Ben-Shalom, Caroline M Keeshen, Kenneth J Burke, Jr., Rebecca L Clarkson, Stephan J Sanders, Kevin J Bender

Neuron. Author manuscript; available in PMC 2021 Mar 5.

Published in final edited form as: Neuron. 2019 Aug 21; 103(4): 673–685.e5. Published online 2019 Jun 20. doi: 10.1016/j.neuron.2019.05.037

PMCID:: PMC7935470

Abstract Article PDF–2.5M

Select item 730622618.

Altered hippocampal replay is associated with memory impairment in mice heterozygous for the Scn2a gene

Steven J. Middleton, Emily M. Kneller, Shuo Chen, Ikuo Ogiwara, Mauricio Montal, Kazuhiro Yamakawa, Thomas J. McHugh

Nat Neurosci. Author manuscript; available in PMC 2020 Jun 21.

Published in final edited form as: Nat Neurosci. 2018 Jul; 21(7): 996–1003. Published online 2018 Jun 4. doi: 10.1038/s41593-018-0163-8

PMCID:: PMC7306226

Abstract Article PDF–837K

Select item 700287519.

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders

Loredana Poeta, Agnese Padula, Benedetta Attianese, Mariaelena Valentino, Lucia Verrillo, Stefania Filosa, Cheryl Shoubridge, Adriano Barra, Charles E Schwartz, Jesper Christensen, Hans van Bokhoven, Kristian Helin, Maria Brigida Lioi, Patrick Collombat, Jozef Gecz, Lucia Altucci, Elia Di Schiavi, Maria Giuseppina Miano

Hum Mol Genet. 2019 Dec 15; 28(24): 4089–4102. Published online 2019 Nov 6. doi: 10.1093/hmg/ddz254

PMCID:: PMC7002875

Abstract Article PDF–1.4M

Select item 673392520.

Na_V1.2 haploinsufficiency in Scn2a knock-out mice causes an autistic-like phenotype attenuated with age

Isabelle Léna, Massimo Mantegazza

Sci Rep. 2019; 9: 12886. Published online 2019 Sep 9. doi: 10.1038/s41598-019-49392-7

PMCID:: PMC6733925

Abstract Article PDF–3.0M

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