Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy

Tojo Nakayama, Christelle M. El Achkar, Lisseth E. Burbano, Imran H. Quraishi, Jing Wu, Melody Li, Yutaro Asami, Sean R. Golinski, Emma Sherrill, Benjamin D. Goodlett, Claudio M. de Gusmao, Danielle A. Friedman, Claudia Lentucci, Victoria Suslovitch, Olivia Riccardi, Kamli N. W. Faour, Ashley Kuniholm, Aubrie Soucy Verran, Siobhan Coffman, Banu Ahtam, Boxun Zhao, Diana H. Chin, Renata L. DiDonato, Chunguang A. Hu, Edith Lopez, Sonia Hills, Snezana Maljevic, Helene Tran, Lynn W. Bush, Patricia Ellen Grant, Joseph R. Madsen, Richard S. Smith, Leonard K. Kaczmarek, Charles B. Berde, Timothy W. Yu

Open source

DOI: 10.1038/s41591-026-04314-9
Published: 2026-04
Container: Nature Medicine
Publisher: Springer Science and Business Media LLC
Open access: unknown

Credibility signals

uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

supportingDOI registered: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
supportingDOI resolves: A matching record was returned by Crossref. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
supportingMetadata completeness: All 6 scored descriptive metadata groups are present. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1038/s41591-026-04314-9,
  title = {Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy},
  author = {Tojo Nakayama and Christelle M. El Achkar and Lisseth E. Burbano and Imran H. Quraishi and Jing Wu and Melody Li and Yutaro Asami and Sean R. Golinski and Emma Sherrill and Benjamin D. Goodlett and Claudio M. de Gusmao and Danielle A. Friedman and Claudia Lentucci and Victoria Suslovitch and Olivia Riccardi and Kamli N. W. Faour and Ashley Kuniholm and Aubrie Soucy Verran and Siobhan Coffman and Banu Ahtam and Boxun Zhao and Diana H. Chin and Renata L. DiDonato and Chunguang A. Hu and Edith Lopez and Sonia Hills and Snezana Maljevic and Helene Tran and Lynn W. Bush and Patricia Ellen Grant and Joseph R. Madsen and Richard S. Smith and Leonard K. Kaczmarek and Charles B. Berde and Timothy W. Yu},
  year = {2026},
  journal = {Nature Medicine},
  doi = {10.1038/s41591-026-04314-9},
  url = {https://doi.org/10.1038/s41591-026-04314-9}
}

RIS

TY  - JOUR
TI  - Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy
AU  - Tojo Nakayama
AU  - Christelle M. El Achkar
AU  - Lisseth E. Burbano
AU  - Imran H. Quraishi
AU  - Jing Wu
AU  - Melody Li
AU  - Yutaro Asami
AU  - Sean R. Golinski
AU  - Emma Sherrill
AU  - Benjamin D. Goodlett
AU  - Claudio M. de Gusmao
AU  - Danielle A. Friedman
AU  - Claudia Lentucci
AU  - Victoria Suslovitch
AU  - Olivia Riccardi
AU  - Kamli N. W. Faour
AU  - Ashley Kuniholm
AU  - Aubrie Soucy Verran
AU  - Siobhan Coffman
AU  - Banu Ahtam
AU  - Boxun Zhao
AU  - Diana H. Chin
AU  - Renata L. DiDonato
AU  - Chunguang A. Hu
AU  - Edith Lopez
AU  - Sonia Hills
AU  - Snezana Maljevic
AU  - Helene Tran
AU  - Lynn W. Bush
AU  - Patricia Ellen Grant
AU  - Joseph R. Madsen
AU  - Richard S. Smith
AU  - Leonard K. Kaczmarek
AU  - Charles B. Berde
AU  - Timothy W. Yu
PY  - 2026
JO  - Nature Medicine
DO  - 10.1038/s41591-026-04314-9
UR  - https://doi.org/10.1038/s41591-026-04314-9
ER  -

APA

Nakayama, T., Achkar, C. M. E., Burbano, L. E., Quraishi, I. H., Wu, J., Li, M., Asami, Y., Golinski, S. R., Sherrill, E., Goodlett, B. D., Gusmao, C. M. D., Friedman, D. A., Lentucci, C., Suslovitch, V., Riccardi, O., Faour, K. N. W., Kuniholm, A., Verran, A. S., Coffman, S., Ahtam, B., Zhao, B., Chin, D. H., DiDonato, R. L., Hu, C. A., Lopez, E., Hills, S., Maljevic, S., Tran, H., Bush, L. W., Grant, P. E., Madsen, J. R., Smith, R. S., Kaczmarek, L. K., Berde, C. B., & Yu, T. W. (2026). Antisense oligonucleotide-mediated knockdown therapy in two infants with severe KCNT1 epileptic encephalopathy. Nature Medicine. https://doi.org/10.1038/s41591-026-04314-9

Source records

crossref · retrieved 2026-09-25T12:32:49.280Z