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Article

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

Journal of medical genetics - 1 Mar 2004

Garcia C C, Blair H J, Seager M, Coulthard A, Tennant S, Buddles M, Curtis A, Goodship J A

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 14985377
DOI: 10.1136/jmg.2003.013680
PMCID: PMC1735688

Genes

SYN1
MAOB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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