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Article

Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene.

European journal of medical genetics - 1 Oct 2013

Bayindir Baran, Piazza Elena, Della Mina Erika, Limongelli Ivan, Brustia Francesca, Ciccone Roberto, Veggiotti Pierangelo, Zuffardi Orsetta, Dehghani Mohammed Reza

Abstract excerpt

We present a patient affected by Dravet syndrome. Thorough analysis of genes that might be involved in the pathogenesis of such phenotype with both conventional and next generation sequencing resulted negative, therefore she was investigated by a-GCH that showed the presence of an unbalanced translocation resulting in a der(4)t(4;8)(p16.3,p23.3). This was an unconventional translocation, different from the...

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Source

Identifiers

PMID: 23999105
DOI: 10.1016/j.ejmg.2013.08.003

Genes

LETM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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