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Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment

Autor: Feria Hikmet Noraddin, Zhe Jin, Maria Sobol, Loora Laan, Jens Schuster, Joakim Klar, Mikael Huss, Niklas Dahl, Bryndis Birnir, Sergiy V. Korol

Publikováno v: Neurobiology of Disease, Vol 132, Iss, Pp-(2019)

Dravet syndrome (DS) is an early onset refractory epilepsy typically caused by de novo heterozygous variants in SCN1A encoding the a-subunit of the neuronal sodium channel Na(v)1.1. The syndrome is characterized by age related progression of seizures

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::638a4ef170810249b74209c9b5b01783
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-398427

Pharmacology of the Nav1.1 domain IV voltage sensor reveals coupling between inactivation gating processes

Autor: Vivek Iyer, Jeremiah D. Osteen, Frank Bosmans, Kevin J. Sampson, David Julius

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, vol 114, iss 26

The Na v 1.1 voltage-gated sodium channel is a critical contributor to excitability in the brain, where pathological loss of function leads to such disorders as epilepsy, Alzheimer’s disease, and autism. This voltage-gated sodium (Na v ) channel su

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62074f5bf1e41599d0781971071263dc
https://europepmc.org/articles/PMC5495237/

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An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior

Autor: Alan L. Goldin, Frank G. Lin, Ligia A. Papale, Robert C. Liu, Karoni Dutt, Anupama Shankar, Andrew Escayg, Christopher D. Makinson, Arthur J. Barela

Publikováno v: Makinson, CD; Dutt, K; Lin, F; Papale, LA; Shankar, A; Barela, AJ; et al.(2016). An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior. Experimental Neurology, 275, 46-58. doi: 10.1016/j.expneurol.2015.09.008. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/11t2366n
Experimental neurology, vol 275 Pt 1, iss 0 1

© 2015 Elsevier Inc. Understanding the role of SCN8A in epilepsy and behavior is critical in light of recently identified human SCN8A epilepsy mutations. We have previously demonstrated that Scn8amedand Scn8amed-jomice carrying mutations in the Scn8

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a59eeae6b4a2e060db2ef33184cc1609
https://escholarship.org/uc/item/11t2366n