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Article

Longitudinal characterization of clinical, developmental, and behavioral phenotypes in 101 children and adults with FOXG1 syndrome.

Journal of neurodevelopmental disorders - 24 Oct 2025

Brimble Elise, Ventola Pam, Blomenberg Elizabeth, Frahlich Kelsey, Kuhathaas Kopika, Hart Christopher E, Bahi-Buisson Nadia, Olson Heather E, Marsh Eric D, Ayalon Gai

Abstract excerpt

BACKGROUND: FOXG1 syndrome is a severe genetic neurodevelopmental disorder characterized by intellectual and developmental disabilities (IDD), postnatal microcephaly, epilepsy, and movement disorder. With the advent of molecular therapies, establishing the natural history of FOXG1 syndrome is critical to enable clinical trial readiness. However, traditional study designs are challenging to implement for rare...

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Identifiers

PMID: 41136907
DOI: 10.1186/s11689-025-09653-1
PMCID: PMC12551263

Genes

FOXG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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