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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...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

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

Genes

SYN1
MAOB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14985377-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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