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Select item 113294211.

Fine mapping and candidate gene analysis of Dravet syndrome modifier loci on mouse chromosomes 7 and 8

Nicole A. Hawkins, Nathan Speakes, Jennifer A. Kearney

Mamm Genome. 2024; 35(3): 334–345. Published online 2024 Jun 11. doi: 10.1007/s00335-024-10046-3

PMCID:: PMC11329421

Abstract Article PDF–1.6M

Select item 112408022.

Voltage-Gated Ion Channels Are Transcriptional Targets of Sox10 during Oligodendrocyte Development

Christian Peters, Tim Aberle, Elisabeth Sock, Jessica Brunner, Melanie Küspert, Simone Hillgärtner, Hannah M. Wüst, Michael Wegner

Cells. 2024 Jul; 13(13): 1159. Published online 2024 Jul 7. doi: 10.3390/cells13131159

PMCID:: PMC11240802

Abstract Article PDF–3.9M

Select item 110441953.

Ndnf Interneuron Excitability Is Spared in a Mouse Model of Dravet Syndrome

Sophie R. Liebergall, Ethan M. Goldberg

J Neurosci. 2024 Apr 24; 44(17): e1977232024. Prepublished online 2024 Mar 5. doi: 10.1523/JNEUROSCI.1977-23.2024

PMCID:: PMC11044195

Abstract Article PDF–5.2M

Select item 109945294.

Temporal manipulation of the Scn1a gene reveals its essential role in adult brain function

Claudia Di Berardino, Martina Mainardi, Simone Brusco, Elena Benvenuto, Vania Broccoli, Gaia Colasante

Brain. 2024 Apr; 147(4): 1216–1230. Published online 2023 Oct 10. doi: 10.1093/brain/awad350

PMCID:: PMC10994529

Abstract Article PDF–1.0M

Select item 107693505.

Identification of new ciliary signaling pathways in the brain and insights into neurological disorders

Abdelhalim Loukil, Emma Ebright, Akiyoshi Uezu, Yudong Gao, Scott H Soderling, Sarah C. Goetz

Version 1. bioRxiv. Preprint. 2023 Dec 21. doi: 10.1101/2023.12.20.572700

PMCID:: PMC10769350

Abstract Article PDF–11M

Select item 106978726.

Preferential expression of SCN1A in GABAergic neurons improves survival and epileptic phenotype in a mouse model of Dravet syndrome

Ana Ricobaraza, Maria Bunuales, Manuela Gonzalez-Aparicio, Saja Fadila, Moran Rubinstein, Irene Vides-Urrestarazu, Julliana Banderas, Noemi Sola-Sevilla, Rocio Sanchez-Carpintero, Jose Luis Lanciego, Elvira Roda, Adriana Honrubia, Patricia Arnaiz, Ruben Hernandez-Alcoceba

J Mol Med (Berl) 2023; 101(12): 1587–1601. Published online 2023 Oct 11. doi: 10.1007/s00109-023-02383-8

PMCID:: PMC10697872

Abstract Article PDF–1.8M

Select item 106032677.

Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy

Sophie F. Hill, Paymaan Jafar-Nejad, Frank Rigo, Miriam H. Meisler

Front Neurosci. 2023; 17: 1282201. Published online 2023 Oct 13. doi: 10.3389/fnins.2023.1282201

PMCID:: PMC10603267

Abstract Article PDF–1.1M

Select item 105924648.

VIP interneuron impairment promotes in vivo circuit dysfunction and autism-related behaviors in Dravet syndrome

Kevin M. Goff, Sophie R. Liebergall, Evan Jiang, Ala Somarowthu, Ethan M. Goldberg

Cell Rep. Author manuscript; available in PMC 2023 Oct 23.

Published in final edited form as: Cell Rep. 2023 Jun 27; 42(6): 112628. Published online 2023 Jun 12. doi: 10.1016/j.celrep.2023.112628

PMCID:: PMC10592464

Abstract Article PDF–3.2M

Select item 105772329.

Therapeutic effects of KRM-II-81, positive allosteric modulator for α2/3 subunit containing GABA_A receptors, in a mouse model of Dravet syndrome

Sachiko Nakakubo, Yasuyoshi Hiramatsu, Takeru Goto, Syuhei Kimura, Masashi Narugami, Midori Nakajima, Yuki Ueda, Hideaki Shiraishi, Atsushi Manabe, Dishary Sharmin, James M. Cook, Kiyoshi Egawa

Front Pharmacol. 2023; 14: 1273633. Published online 2023 Oct 2. doi: 10.3389/fphar.2023.1273633

PMCID:: PMC10577232

Abstract Article PDF–1.6M

Select item 1050263010.

Depressed glutamate transporter 1 expression in a mouse model of Dravet syndrome

Mustafa Q. Hameed, Benjamin Hui, Rui Lin, Paul C. MacMullin, Andres Pascual‐Leone, Sheryl Anne D. Vermudez, Alexander Rotenberg

Ann Clin Transl Neurol. 2023 Sep; 10(9): 1695–1699. Published online 2023 Jul 14. doi: 10.1002/acn3.51851

PMCID:: PMC10502630

Abstract Article PDF–521K

Select item 1044568711.

A hyperthermic seizure unleashes a surge of spreading depolarizations in Scn1a-deficient mice

Isamu Aiba, Yao Ning, Jeffrey L. Noebels

JCI Insight. 2023 Aug 8; 8(15): e170399. Published online 2023 Aug 8. doi: 10.1172/jci.insight.170399

PMCID:: PMC10445687

Abstract Article PDF–1.9M

Select item 1026679212.

Viral vector–mediated expression of Na_V1.1, after seizure onset, reduces epilepsy in mice with Dravet syndrome

Saja Fadila, Bertrand Beucher, Iria González Dopeso-Reyes, Anat Mavashov, Marina Brusel, Karen Anderson, Caroline Ismeurt, Ethan M. Goldberg, Ana Ricobaraza, Ruben Hernandez-Alcoceba, Eric J. Kremer, Moran Rubinstein

J Clin Invest. 2023 Jun 15; 133(12): e159316. Published online 2023 Jun 15. doi: 10.1172/JCI159316

PMCID:: PMC10266792

Abstract Article PDF–32M

Select item 1020895813.

Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome

Brianna K. Unda, Leon Chalil, Sehyoun Yoon, Savannah Kilpatrick, Courtney Irwin, Sansi Xing, Nadeem Murtaza, Anran Cheng, Chad Brown, Alexandria Afonso, Elizabeth McCready, Gabriel M. Ronen, Jennifer Howe, Aurélie Caye-Eude, Alain Verloes, Brad W. Doble, Laurence Faivre, Antonio Vitobello, Stephen W. Scherer, Yu Lu, Peter Penzes, Karun K. Singh

Mol Psychiatry. 2023; 28(4): 1747–1769. Published online 2023 Jan 6. doi: 10.1038/s41380-022-01937-5

PMCID:: PMC10208958

Abstract Article PDF–7.0M

Select item 1020508514.

Scn1a-GFP transgenic mouse revealed Nav1.1 expression in neocortical pyramidal tract projection neurons

Tetsushi Yamagata, Ikuo Ogiwara, Tetsuya Tatsukawa, Toshimitsu Suzuki, Yuka Otsuka, Nao Imaeda, Emi Mazaki, Ikuyo Inoue, Natsuko Tokonami, Yurina Hibi, Shigeyoshi Itohara, Kazuhiro Yamakawa

eLife. 2023; 12: e87495. Published online 2023 May 23. doi: 10.7554/eLife.87495

PMCID:: PMC10205085

Abstract Article PDF–23M

Select item 1019125615.

Heat-induced seizures, premature mortality, and hyperactivity in a novel Scn1a nonsense model for Dravet syndrome

Anat Mavashov, Marina Brusel, Jiaxing Liu, Victoria Woytowicz, Haneui Bae, Ying-Hsin Chen, Vardhan S. Dani, Elena Cardenal-Muñoz, Vittoria Spinosa, José Ángel Aibar, Moran Rubinstein

Front Cell Neurosci. 2023; 17: 1149391. Published online 2023 May 3. doi: 10.3389/fncel.2023.1149391

PMCID:: PMC10191256

Abstract Article PDF–3.1M

Select item 1006757516.

Acute effect of antiseizure drugs on background oscillations in Scn1a^A1783V Dravet syndrome mouse model

Shir Quinn, Marina Brusel, Mor Ovadia, Moran Rubinstein

Front Pharmacol. 2023; 14: 1118216. Published online 2023 Mar 20. doi: 10.3389/fphar.2023.1118216

PMCID:: PMC10067575

Abstract Article PDF–3.9M

Select item 991688817.

Retinal Tissue Shows Glial Changes in a Dravet Syndrome Knock-in Mouse Model

Juan J. Salazar, Andrea Satriano, José A. Matamoros, José A. Fernández-Albarral, Elena Salobrar-García, Inés López-Cuenca, Rosa de Hoz, Lidia Sánchez-Puebla, José M. Ramírez, Cristina Alonso, Valentina Satta, Inés Hernández-Fisac, Onintza Sagredo, Ana I. Ramírez

Int J Mol Sci. 2023 Feb; 24(3): 2727. Published online 2023 Feb 1. doi: 10.3390/ijms24032727

PMCID:: PMC9916888

Abstract Article PDF–3.8M

Select item 987944018.

Heterozygous deletion of Gpr55 does not affect a hyperthermia-induced seizure, spontaneous seizures or survival in the Scn1a^+/^- mouse model of Dravet syndrome

Lyndsey L. Anderson, Dilara A. Bahceci, Nicole A. Hawkins, Declan Everett-Morgan, Samuel D. Banister, Jennifer A. Kearney, Jonathon C. Arnold

PLoS One. 2023; 18(1): e0280842. Published online 2023 Jan 26. doi: 10.1371/journal.pone.0280842

PMCID:: PMC9879440

Abstract Article PDF–1.3M

Select item 984602019.

Optogenetic and chemogenetic manipulation of seizure threshold in mice

Julia A. Kravchenko, Ethan M. Goldberg, Joanna Mattis

STAR Protoc. 2023 Mar 17; 4(1): 102019. Published online 2023 Jan 12. doi: 10.1016/j.xpro.2022.102019

PMCID:: PMC9846020

Abstract Article PDF–4.6M

Select item 964019020.

Na_V1.1 is essential for proprioceptive signaling and motor behaviors

Cyrrus M Espino, Cheyanne M Lewis, Serena Ortiz, Miloni S Dalal, Snigdha Garlapalli, Kaylee M Wells, Darik A O'Neil, Katherine A Wilkinson, Theanne N Griffith

eLife. 2022; 11: e79917. Published online 2022 Oct 24. doi: 10.7554/eLife.79917

PMCID:: PMC9640190

Abstract Article PDF–15M

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