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Article

Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features.

Pediatric neurology - 1 Jan 2015

Ebrahimi-Fakhari Darius, Maas Bianca, Haneke Christian, Niehues Tim, Hinderhofer Katrin, Assmann Birgit E, Runz Heiko

Abstract excerpt

BACKGROUND: Sox6 is a transcription factor that is crucial for the differentiation and development of cortical interneurons and dopaminergic neurons of the substantia nigra pars compact. Loss-of-function mutations might thus result in complex paroxysmal diseases such as epilepsy syndromes or move...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25439488
DOI: 10.1016/j.pediatrneurol.2014.08.021

Genes

SOX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25439488-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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