Cited by 205Epilepsy research and treatmentGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

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Garcia, C C, Blair, H J, Seager, M, Coulthard, A, Tennant, S, Buddles, M, Curtis, A, Goodship, J A·2004·Journal of Medical Genetics

DOI 10.1136/jmg.2003.013680PMC PMC1735688

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Abstract

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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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
ORCID: Blair, H J
Coulthard, 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
DOI: 10.1136/jmg.2003.013680
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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Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

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