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Article

Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2018

Caporali Camilla, Signorini Sabrina, De Giorgis Valentina, Pichiecchio Anna, Zuffardi Orsetta, Orcesi Simona

Abstract excerpt

FOXG1-related syndrome is a developmental encephalopathy with a high phenotypic variability. A movement disorder presenting at onset is one of the main features, along with microcephaly and severe psychomotor delay without regression. Specific brain MRI findings facilitate the diagnosis. We report three cases of FOXG1-related syndrome, focusing on clinical onset, brain MRI and evolution over time in order to...

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Source

Identifiers

PMID: 29396177
DOI: 10.1016/j.ejpn.2018.01.007

Genes

FOXG1
PRKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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