The DOI matches its Crossref record; 18 of the 18 references it cites were found in a registry or an index.
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy
Open accessAbstract
A four generation family is described in which some men of normal intelligence have epilepsy and others have various combinations of epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. As the phenotype in this family is distinct from other X linked recessive disorders linkage studies were carried out. Linkage analysis was done using X chromosome microsatellite polymorphisms to define the interval containing the causative gene. Genes from within the region were considered possible candidates and one of these, SYN1 , was screened for mutations by direct DNA sequencing of amplified products. Microsatellite analysis showed that the region between MAOB (Xp11.3) and DXS1275 (Xq12) segregated with the disease. Two point linkage analysis demonstrated linkage with DXS1039, lod score 4·06 at θ = 0, and DXS991, 3·63 at θ = 0. Candidate gene analysis led to identification of a nonsense mutation in the gene encoding synapsin I that was present in all affected family members and female carriers and was not present in 287 control chromosomes. Synapsin I is a synaptic vesicle associated protein involved in the regulation of synaptogenesis and neurotransmitter release. The SYN1 nonsense mutation that was identified is the likely cause of the phenotype in this family.
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“The putative influence of SYN1 in TRD patients may be related to the fact that synapsins play a role during neuronal development and synapse formation [39,40].”
From The Impact of BDNF, NTRK2, NGFR, CREB1, GSK3B, AKT, MAPK1, MTOR, PTEN, ARC, and SYN1 Genetic Polymorphisms in Antidepressant Treatment Response Phenotypes (2023) · cites this paper as [39]
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“It is also postulated that synapsins regulate the kinetics of neurotransmitter release during priming of synaptic vesicles at the plasma membrane [39].”
From The Impact of BDNF, NTRK2, NGFR, CREB1, GSK3B, AKT, MAPK1, MTOR, PTEN, ARC, and SYN1 Genetic Polymorphisms in Antidepressant Treatment Response Phenotypes (2023) · cites this paper as [39]
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“Furthermore, mutations within this gene have been observed in a family with epilepsy [39].”
From The Impact of BDNF, NTRK2, NGFR, CREB1, GSK3B, AKT, MAPK1, MTOR, PTEN, ARC, and SYN1 Genetic Polymorphisms in Antidepressant Treatment Response Phenotypes (2023) · cites this paper as [39]
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Cites
Strategies for multilocus linkage analysis in humans.
Lathrop, M. G., Lalouel, J.-M., Julier, C., & Ott, J. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.11.3443 · Cited by 2,560
Synaptic Vesicle Phosphoproteins and Regulation of Synaptic Function
Greengard, P., Valtorta, F., Czernik, A. J., & Benfenati, F. (1993) · Science · doi:10.1126/science.8430330 · Cited by 1,311
Essential functions of synapsins I and II in synaptic vesicle regulation
Rosahl, T. W., Spillane, D., Missler, M., Herz, J., Selig, D. K., Wolff, J. R., Hammer, R. E., Malenka, R. C., & Südhof, T. C. (1995) · Nature · doi:10.1038/375488a0 · Cited by 719
Synapsins as Regulators of Neurotransmitter Release
Hilfiker, S., Pieribone, V. A., Czernik, A. J., Kao, H.-T., Augustine, G. J., & Greengard, P. (1999) · Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences · doi:10.1098/rstb.1999.0378 · Cited by 537
Synapsins: Mosaics of Shared and Individual Domains in a Family of Synaptic Vesicle Phosphoproteins
Südhof, T. C., Czernik, A. J., Kao, H., Takei, K., Johnston, P. A., Horiuchi, A., Kanazir, S., Wagner, M. A., Perin, M. S., Camilli, P. V. D., et al. (1989) · Science · doi:10.1126/science.2506642 · Cited by 533
Li, L., Chin, L., Shupliakov, O., Brodin, L., Sihra, T., Hvalby, O., Jensen, V., Zheng, D., McNamara, J. O., & Greengard, P. (1995) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.92.20.9235 · Cited by 351
Short-term synaptic plasticity is altered in mice lacking synapsin I
Rosahl, T. (1993) · Cell · doi:10.1016/0092-8674(93)90487-b · Cited by 328
Llinas, R. H., Gruner, J. A., Sugimori, M., McGuinness, T. L., & Greengard, P. (1991) · The Journal of Physiology · doi:10.1113/jphysiol.1991.sp018549 · Cited by 317
Takei, Y., Harada, A., Takeda, S., Kobayashi, K., Terada, S., Noda, T., Takahashi, T., & Hirokawa, N. (1995) · The Journal of Cell Biology · doi:10.1083/jcb.131.6.1789 · Cited by 167
Killing the messenger: new insights into nonsense-mediated mRNA decay
Byers, P. H. (2002) · Journal of Clinical Investigation · doi:10.1172/jci14841 · Cited by 152
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Rosenfeld, E. B., Kasatkin, N., Yu, B. L., Velinov, M. T., Brandt, J. S., & Ashkinadze, E. (2026) · Pregnancy · doi:10.1002/pmf2.70280
LRRC57/RABIN is a presynaptic inhibitor of Rab GTPases in glutamatergic neuronsPreprint
Garić, D., Murphy, J. G., Teubner, B. J. W., Davenport, C. M., Shreffler, C. D., Janke, L. J., Cho, W. J., Wu, Z., McReynolds, M. G., Phasuk, S., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.08.05.743108
Metadata
- Authors
- Garcia, C. C., Blair, H. J., Seager, M., Coulthard, A., Tennant, S., Buddles, M., Curtis, A., & Goodship, J. A.
- Affiliations
- Centre for Life (GB)
- Northgate Hospital (GB)
- Royal Victoria Infirmary (GB)
- Corresponding author
- Goodship, J A
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2004-03
- Volume
- 41
- Issue
- 3
- Pages
- 183-186
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC1735688
- OpenAlex
- W2102875752
- Cited by
- 205
- References
- 18
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 5 · 2023: 8 · 2022: 8 · 2021: 7 · 2020: 10 · 2019: 13 · 2018: 8 · 2017: 13 · 2016: 4 · 2015: 15 · 2014: 9 · 2013: 17 · 2012: 17
- FWCI
- 5.22
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- synapsin I, nonsense mutation, X-linked epilepsy, familial epilepsy, macrocephaly, learning difficulties, aggression, synaptic vesicle proteins, synaptogenesis, neurotransmitter release
- MeSH terms
- Adolescent, Adult, Base Sequence, Chromosome Mapping, Epilepsy, Female, Haplotypes, Humans, Male, Middle Aged, Molecular Sequence Data, Monoamine Oxidase, Mutation, Pedigree, Phenotype, Polymorphism, Genetic, Synaptic Vesicles, Synapsins, Microsatellite Repeats, Chromosomes, Human, X
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