Search Results - "Isom LL"

Cryopreservation of human cortical organoids using vitrification.

Authors: Stokes K Mojica-Perez S Jacobs S et al.

Source: Frontiers in molecular neuroscience [Front Mol Neurosci] 2026 Sep 08; Vol. 19, pp. 1913908. Date of Electronic Publication: 2026 Sep 08 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477914 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5099 (Print) Linking ISSN: 16625099 NLM ISO Abbreviation: Front Mol Neurosci Subsets: PubMed not MEDLINE

Pathophysiology of sudden unexpected death in epilepsy: a devasting convergence of dysfunction in brain, respiratory systems, and heart.

Authors: Catalfio AM Gehlbach BK Nabha S et al.

Source: Physiological reviews [Physiol Rev] 2026 Oct 14. Date of Electronic Publication: 2026 Oct 14.

Publication Type: Journal Article; Review

Journal Info: Publisher: American Physiological Society Country of Publication: United States NLM ID: 0231714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1210 (Electronic) Linking ISSN: 00319333 NLM ISO Abbreviation: Physiol Rev Subsets: MEDLINE

Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1.

Authors: Calhoun JD Wang C Biar CG et al.

Source: The Journal of clinical investigation [J Clin Invest] 2026 Sep 17; Vol. 136 (21). Date of Electronic Publication: 2026 Sep 17 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Dravet syndrome therapeutics: where are we, what works, and what's next?

Authors: Bagchi VA Ziobro J Isom LL

Source: Expert opinion on pharmacotherapy [Expert Opin Pharmacother] 2025 Oct-Oct; Vol. 26 (14-15), pp. 1549-1564. Date of Electronic Publication: 2025 Nov 05.

Publication Type: Journal Article; Review

Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 100897346 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-7666 (Electronic) Linking ISSN: 14656566 NLM ISO Abbreviation: Expert Opin Pharmacother Subsets: MEDLINE

Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency.

Authors: Ramos-Mondragon R Wang S Liu Q et al.

Source: Epilepsia [Epilepsia] 2026 Jul; Vol. 67 (7), pp. 3738-3752. Date of Electronic Publication: 2026 Apr 09.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

The impact of seizures on REM sleep and the cholinergic pedunculopontine nucleus in a mouse model of Dravet Syndrome.

Authors: Santiago-Colon KM Rana C Toth B et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Feb 18. Date of Electronic Publication: 2026 Feb 18.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Unraveling SUDEP: Mechanisms of Seizure-Induced Cardiac and Respiratory Impairment.

Authors: Wenker IC Gehlbach BK Isom LL et al.

Source: Epilepsy currents [Epilepsy Curr] 2026 Jan 21, pp. 15357597261416723. Date of Electronic Publication: 2026 Jan 21.

Publication Type: Journal Article

Journal Info: Publisher: SAGE Publications Country of Publication: United States NLM ID: 101135954 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1535-7597 (Print) Linking ISSN: 15357511 NLM ISO Abbreviation: Epilepsy Curr

Mitochondrial NOX4 drives atrial fibrillation via redox-dependent structural remodeling and fibrosis.

Authors: Mondragon RR Vendrov AE Lozhkin A et al.

Source: Free radical biology & medicine [Free Radic Biol Med] 2026 Jan; Vol. 242, pp. 391-403. Date of Electronic Publication: 2025 Nov 01.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 8709159 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4596 (Electronic) Linking ISSN: 08915849 NLM ISO Abbreviation: Free Radic Biol Med Subsets: MEDLINE

Antisense oligonucleotides restore excitability, GABA signalling and sodium current density in a Dravet syndrome model.

Authors: Yuan Y Lopez-Santiago L Denomme N et al.

Source: Brain : a journal of neurology [Brain] 2024 Apr 04; Vol. 147 (4), pp. 1231-1246.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Human Medial Ganglionic Eminence Organoids Robustly Generate Parvalbumin Interneurons and Fast-Spiking Neurons and Reveal Migratory Deficits in SLC6A1 Deficient Interneurons.

Authors: Varela MC Walker MP Bok J et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Nov 14. Date of Electronic Publication: 2025 Nov 14.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Sudden Unexpected Death in Epilepsy (SUDEP) Summit: Recommendations and priorities for clinical action, awareness, public health and epidemiology, and basic science.

Authors: Iyengar SS Lapham G Buchhalter JR et al.

Source: Epilepsy & behavior : E&B [Epilepsy Behav] 2025 Oct; Vol. 171, pp. 110648. Date of Electronic Publication: 2025 Aug 11.

Publication Type: Journal Article; Review

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 100892858 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-5069 (Electronic) Linking ISSN: 15255050 NLM ISO Abbreviation: Epilepsy Behav Subsets: MEDLINE

Ataxia and cerebellar hypoexcitability in a mouse model of SCN1B-linked Dravet syndrome.

Authors: Yuan Y O'Malley HA Winters JJ et al.

Source: JCI insight [JCI Insight] 2025 Sep 09; Vol. 10 (17). Date of Electronic Publication: 2025 Sep 09 (Print Publication: 2025).

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: eCollection Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

Neuromodulation of voltage-gated sodium channels by Gβ1γ2 subunits: Implications for GNB1-linked encephalopathy.

Authors: Denomme N Hodges SL Lopez-Santiago L et al.

Source: Neurobiology of disease [Neurobiol Dis] 2025 Sep; Vol. 213, pp. 106990. Date of Electronic Publication: 2025 Jun 05.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE

Ontology accelerates few-shot learning capability of large language model: A study in extraction of drug efficacy in a rare pediatric epilepsy.

Authors: Golnari P Prantzalos K Hood V et al.

Source: International journal of medical informatics [Int J Med Inform] 2025 Sep; Vol. 201, pp. 105942. Date of Electronic Publication: 2025 Apr 21.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Elsevier Science Ireland Ltd Country of Publication: Ireland NLM ID: 9711057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8243 (Electronic) Linking ISSN: 13865056 NLM ISO Abbreviation: Int J Med Inform Subsets: MEDLINE

Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy.

Authors: Chen C Ziobro J Robinson-Cooper L et al.

Source: Brain communications [Brain Commun] 2023 Oct 20; Vol. 5 (6), pp. fcad283. Date of Electronic Publication: 2023 Oct 20 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Altered cardiac excitability and arrhythmia in models of SCN1B-linked developmental and epileptic encephalopathy.

Authors: Ramos-Mondragon R Wang S Edokobi N et al.

Source: JCI insight [JCI Insight] 2025 Aug 05; Vol. 10 (17). Date of Electronic Publication: 2025 Aug 05 (Print Publication: 2025).

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: eCollection Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

NOX4-driven mitochondrial oxidative stress in aging promotes myocardial remodeling and increases susceptibility to ventricular tachyarrhythmia.

Authors: Mondragon RR Wang S Stevenson MD et al.

Source: Free radical biology & medicine [Free Radic Biol Med] 2025 Aug 01; Vol. 235, pp. 294-305. Date of Electronic Publication: 2025 May 02.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 8709159 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-4596 (Electronic) Linking ISSN: 08915849 NLM ISO Abbreviation: Free Radic Biol Med Subsets: MEDLINE

Special section: William A. Catterall Memorial Issue - Mechanisms of Electrical Excitability.

Authors: Isom LL; Maurice H. Seevers Professor and Chair of Pharmacology, Professor of Molecular and Integrative Physiology, Professor of Neurology, University of Michigan Medical School, Ann Arbor, Michigan. Electronic address: lisom@umich.edu.

Source: Molecular pharmacology [Mol Pharmacol] 2025 Jun; Vol. 107 (6), pp. 100044. Date of Electronic Publication: 2025 May 06.

Publication Type: Editorial

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0035623 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-0111 (Electronic) Linking ISSN: 0026895X NLM ISO Abbreviation: Mol Pharmacol Subsets: MEDLINE; In Process

No more nonsense: evaluating poison exons as therapeutic targets in neurodevelopmental disorders.

Authors: Bakshi S Isom LL

Source: Current opinion in genetics & development [Curr Opin Genet Dev] 2025 Jun; Vol. 92, pp. 102346. Date of Electronic Publication: 2025 Apr 09.

Publication Type: Journal Article; Review

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 9111375 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0380 (Electronic) Linking ISSN: 0959437X NLM ISO Abbreviation: Curr Opin Genet Dev Subsets: MEDLINE

DSCAM gene triplication causes excessive GABAergic synapses in the neocortex in Down syndrome mouse models.

Authors: Liu H Caballero-Florán RN Hergenreder T et al.

Source: PLoS biology [PLoS Biol] 2023 Apr 20; Vol. 21 (4), pp. e3002078. Date of Electronic Publication: 2023 Apr 20 (Print Publication: 2023).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101183755 Publication Model: eCollection Cited Medium: Internet ISSN: 1545-7885 (Electronic) Linking ISSN: 15449173 NLM ISO Abbreviation: PLoS Biol Subsets: MEDLINE