Skip to content
DraconiticResearch
Search Sources API
178,970 studies31 sourcesUpdated 4 min ago
PreprintAll rights reservedbioRxiv

Cis-Attenuation of Pathogenic Scn8a Variant Causing Childhood Epilepsy Reveals Opposing Transcriptional Programs Driving NaV1.6 Gain and Loss of Function Phenotypes

  1. 1University of Arizona

Related

  1. Population-specific differences in ClinVar pathogenic and likely pathogenic variants of epilepsy-associated genes between East Asian and non-finnish European populations: a nucleotide-resolved gnomAD v4.1.1 analysis
    Jin-Xing Lai, Jin-Xing Lai, Ming-Feng He +4
    Frontiers in GeneticsPeer-reviewedCC BYFull textGenetics & genomicsDOAJ
  2. Airway Microbiota Dynamics Uncover a Critical Window for Interplay of Pathogenic Bacteria and Allergy in Childhood Respiratory Disease
    S. M. Teo, H. H. F. Tang, D. Mok +16
    Cell Host and MicrobePeer-reviewedLicence not statedFull text203 citedMicrobiologyHAL
  3. Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1
    Jeffrey D. Calhoun, Chengbing Wang, Carina G. Biar +14
    The Journal of Clinical InvestigationPeer-reviewedCC BY 4.0Full textGenetics & genomicsPMC
  4. Non-coding RNAs drive transcriptional network rewiring underlying thermal dimorphism in a human pathogenic fungus
    X. Hu, J. Wang, E. Yang
    bioRxivPreprintCC BY-NC-NDFull textMicrobiologybioRxiv
  5. Sleep spindle deficits in childhood absence epilepsy improve with antiseizure treatment and disease resolution
    S. K. Goodman, S. Yi, D. M. Chinappen +3
    bioRxivPreprintCC BY-NC-NDFull textNeurosciencebioRxiv
BibTeX
@misc{hammer2026cisattenuation,
  title = {{Cis-Attenuation of Pathogenic Scn8a Variant Causing Childhood Epilepsy Reveals Opposing Transcriptional Programs Driving NaV1.6 Gain and Loss of Function Phenotypes}},
  author = {M. F. Hammer and E. Bahramnejad},
  howpublished = {bioRxiv},
  year = {2026},
  month = sep,
  doi = {10.64898/2026.09.08.750173},
  url = {https://www.biorxiv.org/content/10.64898/2026.09.08.750173v1},
}
RIS
TY  - UNPB
TI  - Cis-Attenuation of Pathogenic Scn8a Variant Causing Childhood Epilepsy Reveals Opposing Transcriptional Programs Driving NaV1.6 Gain and Loss of Function Phenotypes
AU  - M. F. Hammer
AU  - E. Bahramnejad
PY  - 2026
DA  - 2026/09/08
PB  - bioRxiv
DO  - 10.64898/2026.09.08.750173
UR  - https://www.biorxiv.org/content/10.64898/2026.09.08.750173v1
ER  -