Bi-allelic GAD2 variants cause a rare developmental encephalopathy with early-onset seizures.

van der Lei MB, De Wachter M, D'Incal CP, Scott A, Calus E, Van der Veken MML, Elinck E, De Man K, El Ouaamari Y, Schepers A, Mateiu L, Van Dam D, Schoonjans AS, Wakeling E, Elkhateeb N, Selim L, Hölter SM, Marschall S, Fuchs H, Gailus-Durner V, de Angelis MH, Maroofian R, Ceulemans B, Jansen AC, Kooy RF

Open source

DOI: 10.1016/j.gim.2026.102724
Published: 2026 Sep 15
Container: Genetics in medicine : official journal of the American College of Medical Genetics
Publisher: Not recorded
Open access: unknown

Credibility signals

limited evidence Score 43/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. 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
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1016/j.gim.2026.102724,
  title = {Bi-allelic GAD2 variants cause a rare developmental encephalopathy with early-onset seizures.},
  author = {van der Lei MB and De Wachter M and D'Incal CP and Scott A and Calus E and Van der Veken MML and Elinck E and De Man K and El Ouaamari Y and Schepers A and Mateiu L and Van Dam D and Schoonjans AS and Wakeling E and Elkhateeb N and Selim L and Hölter SM and Marschall S and Fuchs H and Gailus-Durner V and de Angelis MH and Maroofian R and Ceulemans B and Jansen AC and Kooy RF},
  year = {2026},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1016/j.gim.2026.102724},
  url = {https://doi.org/10.1016/j.gim.2026.102724}
}

RIS

TY  - JOUR
TI  - Bi-allelic GAD2 variants cause a rare developmental encephalopathy with early-onset seizures.
AU  - van der Lei MB
AU  - De Wachter M
AU  - D'Incal CP
AU  - Scott A
AU  - Calus E
AU  - Van der Veken MML
AU  - Elinck E
AU  - De Man K
AU  - El Ouaamari Y
AU  - Schepers A
AU  - Mateiu L
AU  - Van Dam D
AU  - Schoonjans AS
AU  - Wakeling E
AU  - Elkhateeb N
AU  - Selim L
AU  - Hölter SM
AU  - Marschall S
AU  - Fuchs H
AU  - Gailus-Durner V
AU  - de Angelis MH
AU  - Maroofian R
AU  - Ceulemans B
AU  - Jansen AC
AU  - Kooy RF
PY  - 2026
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1016/j.gim.2026.102724
UR  - https://doi.org/10.1016/j.gim.2026.102724
ER  -

APA

MB, V. D. L., M, D. W., CP, D., A, S., E, C., MML, V. D. V., E, E., K, D. M., Y, E. O., A, S., L, M., D, V. D., AS, S., E, W., N, E., L, S., SM, H., S, M., H, F., V, G., MH, D. A., R, M., B, C., AC, J., & RF, K. (2026). Bi-allelic GAD2 variants cause a rare developmental encephalopathy with early-onset seizures.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2026.102724

Source records

pubmed · retrieved 2026-09-25T17:27:09.151Z