The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.
Mutations in EFHC1 cause juvenile myoclonic epilepsy
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Structure and Regulation of Voltage-Gated Ca 2+ Channels
Catterall, W. A. (2000) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.16.1.521 · Cited by 2,344
Absence Epilepsy in Tottering Mutant Mice Is Associated with Calcium Channel Defects
Fletcher, C. F., Lutz, C. M., O'Sullivan, T. N., Shaughnessy, J. D., Hawkes, R., Frankel, W. N., Copeland, N. G., & Jenkins, N. A. (1996) · Cell · doi:10.1016/s0092-8674(00)81381-1 · Cited by 772
The mouse stargazer gene encodes a neuronal Ca2+-channel γ subunit
Letts, V. A., Felix, R., Biddlecome, G. H., Arikkath, J., Mahaffey, C. L., Valenzuela, A., Bartlett, F. S., Mori, Y., Campbell, K. P., & Frankel, W. N. (1998) · Nature Genetics · doi:10.1038/1228 · Cited by 579
Self-citationMutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)
Pennacchio, L. A., Lehesjoki, A.-E., Stone, N. E., Willour, V. L., Virtaneva, K., Miao, J., D'Amato, E., Ramirez, L., Faham, M., Koskiniemi, M., et al. (1996) · Science · doi:10.1126/science.271.5256.1731 · Cited by 541
Escayg, A., De Waard, M., Lee, D. D., Bichet, D., Wolf, P., Mayer, T., Johnston, J., Baloh, R., Sander, T., & Meisler, M. H. (2000) · The American Journal of Human Genetics · doi:10.1086/302909 · Cited by 423
Burgess, D. L., Jones, J. M., Meisler, M. H., & Noebels, J. L. (1997) · Cell · doi:10.1016/s0092-8674(00)81877-2 · Cited by 397
Newcomb, R., Szoke, B., Palma, A., Wang, G., Chen, X.-H., Hopkins, W., Cong, R., Miller, J., Urge, L., Tarczy-Hornoch, K., et al. (1998) · Biochemistry · doi:10.1021/bi981255g · Cited by 396
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel
Jouvenceau, A., Eunson, L. H., Spauschus, A., Ramesh, V., Zuberi, S. M., Kullmann, D. M., & Hanna, M. G. (2001) · The Lancet · doi:10.1016/s0140-6736(01)05971-2 · Cited by 387
Janz, D., & Christian, W. (1957) · Deutsche Zeitschrift f�r Nervenheilkunde · doi:10.1007/bf00242439 · Cited by 288
Braunewell, K.-H., & Gundelfinger, E. D. (1999) · Cell and Tissue Research · doi:10.1007/s004410051207 · Cited by 251
Cited by
Cellular and Network Mechanisms of Spike‐Wave Seizures
Blumenfeld, H. (2005) · Epilepsia · doi:10.1111/j.1528-1167.2005.00311.x · Cited by 454
Wagnon, J. L., Briese, M., Sun, W., Mahaffey, C. L., Curk, T., Rot, G., Ule, J., & Frankel, W. N. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1003067 · Cited by 125
Tetrahymena RIB72A and RIB72B are microtubule inner proteins in the ciliary doublet microtubules
Stoddard, D., Zhao, Y., Bayless, B. A., Gui, L., Louka, P., Dave, D., Suryawanshi, S., Tomasi, R. F.-X., Dupuis-Williams, P., Baroud, C. N., et al. (2018) · Molecular Biology of the Cell · doi:10.1091/mbc.e18-06-0405 · Cited by 53
PACRG, a protein linked to ciliary motility, mediates cellular signaling
Loucks, C. M., Bialas, N. J., Dekkers, M. P. J., Walker, D. S., Grundy, L. J., Li, C., Inglis, P. N., Kida, K., Schafer, W. R., Blacque, O. E., et al. (2016) · Molecular Biology of the Cell · doi:10.1091/mbc.e15-07-0490 · Cited by 23
Loucks, C. M., Park, K., Walker, D. S., McEwan, A. H., Timbers, T. A., Ardiel, E. L., Grundy, L. J., Li, C., Johnson, J.-L., Kennedy, J., et al. (2019) · eLife · doi:10.7554/elife.37271 · Cited by 18
Metadata
- Authors
- Suzuki, T., Delgado-Escueta, A. V., Aguan, K., Alonso, M. E., Shi, J., Hara, Y., Nishida, M., Numata, T., Medina, M. T., Takeuchi, T., Morita, R., Bai, D., Ganesh, S., Sugimoto, Y., Inazawa, J., Bailey, J. N., Ochoa, A., Jara-Prado, A., Rasmussen, A., Ramos-Peek, J., Cordova, S., Rubio-Donnadieu, F., Inoue, Y., Osawa, M., Kaneko, S., Oguni, H., Mori, Y., & Yamakawa, K.
- Venue
- Nature Genetics
- Published
- 2004-07-18
- Volume
- 36
- Issue
- 8
- Pages
- 842-849
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1971002207
- Cited by
- 372
- References
- 23
- FWCI
- 16.60
- Type
- journal article
- Language
- en
- Open access
- closed
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Mutations in EFHC1 cause juvenile myoclonic epilepsy. https://app.cochat.ai/papers/10.1038/ng1393
- The paper
- Suzuki, T., Delgado-Escueta, A. V., Aguan, K., Alonso, M. E., Shi, J., Hara, Y., Nishida, M., Numata, T., Medina, M. T., Takeuchi, T., Morita, R., Bai, D., Ganesh, S., Sugimoto, Y., Inazawa, J., Bailey, J. N., Ochoa, A., Jara-Prado, A., Rasmussen, A., . . . Yamakawa, K. (2004). Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nature Genetics. https://doi.org/10.1038/ng1393
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
