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Article

Duplications of 17q12 can cause familial fever-related epilepsy syndromes.

Neurology - 15 Oct 2013

Hardies Katia, Weckhuysen Sarah, Peeters Elke, Holmgren Philip, Van Esch Hilde, De Jonghe Peter, Van Paesschen Wim, Suls Arvid

Abstract excerpt

OBJECTIVES: After we identified a 17q12 duplication cosegregating in a 4-generation family with genetic or generalized epilepsy with febrile seizures plus (GEFS+), we aimed to determine the frequency of 17q12 genomic rearrangements in GEFS+ and a wide spectrum of other epilepsy phenotypes. We furthermore describe seizure prevalence in previously reported patients with a 17q12 duplication or deletion. METHODS: We...

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Share to Chromosomes, Human, Pair 17
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24049133
DOI: 10.1212/WNL.0b013e3182a84163

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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