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Article

Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1.

Annals of human genetics - 1 May 2015

Nicita Francesco, Ulgiati Fiorenza, Bernardini Laura, Garone Giacomo, Papetti Laura, Novelli Antonio, Spalice Alberto

Abstract excerpt

Deletions in the 9q33-q34 region have been reported in patients with early onset epileptic encephalopathy, but a consistent phenotype has yet to emerge. We report on the diagnosis of a de novo 9q33-q34.12 microdeletion of 4 Mb in a 15-month-old girl presenting with severe psychomotor delay, facial dysmorphisms, thin corpus callosum and early myoclonic encephalopathy. This deletion encompasses 101 RefSeq genes,...

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Source

Identifiers

PMID: 25779878
DOI: 10.1111/ahg.12106

Genes

SPTAN1
STXBP1
ENG

Provenance

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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