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Article

A novel GEFS+ locus on 12p13.33 in a large Roma family.

Epilepsy research - 1 Nov 2011

Morar Bharti, Zhelyazkova Sashka, Azmanov Dimitar N, Radionova Melania, Angelicheva Dora, Guergueltcheva Velina, Kaneva Radka, Scheffer Ingrid E, Tournev Ivailo, Kalaydjieva Luba, Sander Josemir W

Abstract excerpt

We report a clinical and genetic follow-up study of a large consanguineous family from an endogamous Roma/Gypsy sub-isolate, where previous analyses have been inconclusive. Detailed clinical information was collected through extensive field work, repeat interviews and electrophysiological and neuroimaging investigations on 18 affected subjects. The phenotype is compatible with GEFS+, with some unusual features,...

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Share to Chromosomes, Human, Pair 12

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21917424
DOI: 10.1016/j.eplepsyres.2011.08.009

Genes

ERC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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