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Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions
Open accessAbstract
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation is unknown. We have now identified four truncating mutations involving the gene PRRT2 in the vast majority (24/25) of well-characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families. PRRT2 encodes a proline-rich transmembrane protein of unknown function that has been reported to interact with the t-SNARE, SNAP25. PRRT2 localizes to axons but not to dendritic processes in primary neuronal culture, and mutants associated with PKD/IC lead to dramatically reduced PRRT2 levels, leading ultimately to neuronal hyperexcitability that manifests in vivo as PKD/IC.
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Cites
Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Drmanac, R., Sparks, A. B., Callow, M. J., Halpern, A. L., Burns, N. L., Kermani, B. G., Carnevali, P., Nazarenko, I., Nilsen, G. B., Yeung, G., et al. (2010) · Science · doi:10.1126/science.1181498 · Cited by 1,212
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Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies
van der Veen, S., Tse, G. T. W., Ferretti, A., Garone, G., Post, B., Specchio, N., Fung, V. S. C., Trivisano, M., & Scheffer, I. E. (2023) · Neurology · doi:10.1212/wnl.0000000000207808 · Cited by 32
Interaction and subcellular association of PRRT1/SynDIG4 with AMPA receptors
Martin, E. E., Wleklinski, E., Hoang, H. T. M., & Ahmad, M. (2021) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2021.705664 · Cited by 16
TMEM151A variants associated with paroxysmal kinesigenic dyskinesia
Huang, H. L., Zhang, Q. X., Huang, F., Long, X. Y., Song, Z., Xiao, B., Li, G. L., Ma, C. Y., & Liu, D. (2023) · Human Genetics · doi:10.1007/s00439-023-02535-3 · Cited by 8
Metadata
- Authors
- Lee, H.-Y., Huang, Y., Bruneau, N., Roll, P., Roberson, E. D. O., Hermann, M., Quinn, E., Maas, J., Edwards, R., Ashizawa, T., Baykan, B., Bhatia, K., Bressman, S., Bruno, M. K., Brunt, E. R., Caraballo, R., Echenne, B., Fejerman, N., Frucht, S., Gurnett, C. A., Hirsch, E., Houlden, H., Jankovic, J., Lee, W.-L., Lynch, D. R., Mohammed, S., Müller, U., Nespeca, M. P., Renner, D., Rochette, J., Rudolf, G., Saiki, S., Soong, B.-W., Swoboda, K. J., Tucker, S., Wood, N., Hanna, M., Bowcock, A. M., Szepetowski, P., Fu, Y.-H., & Ptáček, L. J.
- Venue
- Cell Reports
- Publisher
- Elsevier BV
- Published
- 2012-01
- Volume
- 1
- Issue
- 1
- Pages
- 2-12
- ISSN
- 2211-1247 (ISSN-L)
- OpenAlex
- W1996191050
- Cited by
- 270
- References
- 1
- FWCI
- 24.18
- Type
- journal article
- Language
- en
- Open access
- gold
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- CoChat. (2026). Citation check: Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions. https://app.cochat.ai/papers/10.1016/j.celrep.2011.11.001
- The paper
- Lee, H.-Y., Huang, Y., Bruneau, N., Roll, P., Roberson, E. D. O., Hermann, M., Quinn, E., Maas, J., Edwards, R., Ashizawa, T., Baykan, B., Bhatia, K., Bressman, S., Bruno, M. K., Brunt, E. R., Caraballo, R., Echenne, B., Fejerman, N., Frucht, S., . . . Ptáček, L. J. (2012). Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions. Cell Reports. https://doi.org/10.1016/j.celrep.2011.11.001
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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.
