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Article

Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.

The Journal of pediatrics - 1 Nov 2016

Ma Mandy, Adams Heather R, Seltzer Laurie E, Dobyns William B, Paciorkowski Alex R

Abstract excerpt

OBJECTIVE: To differentiate developmental encephalopathies by creating a novel quantitative phenotyping tool. STUDY DESIGN: We created the Developmental Encephalopathy Inventory (DEI) to differentiate disorders with complex multisystem neurodevelopmental symptoms. We then used the DEI to study the phenotype features of 20 subjects with FOXG1 disorder and 11 subjects with MECP2 disorder. RESULTS: The DEI...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27640358
DOI: 10.1016/j.jpeds.2016.08.032
PMCID: PMC5873956

Genes

FOXG1
MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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