Download Full Text (pdf) Of Transcriptomes Of Dravet Syndrome IPSC Derived GABAergic Cells Reveal Dysregulated Pathways For Chro.pdf

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🔗 Source: uu.diva-portal.org
📊 Size: 1.49 MB
👤 Author: Jens Schuster
⬇️ Downloads: 215

Summary

Dravet syndrome (DS) is a severe form of epilepsy caused by mutations in the SCN1A gene, leading to haploinsufficiency of the Nav1.1 sodium channel. Researchers used induced pluripotent stem cells (iPSCs) from DS patients to study the disease's neurodevelopmental features. They found that DS-iPSC-derived GABAergic cells exhibited impaired sodium current activation and increased sensitivity to oxidative stress. Transcriptome analysis revealed dysregulation of genes involved in chromatin remodeling, neural plasticity, and excitability. The study highlights the importance of transcriptional changes and disrupted pathways in Nav1.1 haploinsufficient GABAergic cells, providing a molecular framework for understanding DS and other neurodevelopmental disorders.

Description

Dravet syndrome (DS) is a severe form of epilepsy caused by mutations in the SCN1A gene, leading to haploinsufficiency of the Nav1.1 sodium channel.

Technical Information

  • File Format: PDF
  • File Size: 1.49 MB
  • Pages: 9
  • Language: EN
  • Author: Jens Schuster
  • Total Downloads: 215
  • Last Updated: 4 weeks ago

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