Bridging the Gap of CHD8-related Movement Disorders: Review of the Literature and a New Possible Case Due to a Novel Missense Variant (P8-5.025)

To describe the movement disorder phenomenology in a 5-year-old female with a novel CHD8 missense variant compared to literature review.

Authors

Melanie Li
Claire Miller (ORCID: https://orcid.org/0000-0003-0758-9447)
Giulietta Riboldi (ORCID: https://orcid.org/0000-0003-0322-5718)
Dena Hernandez
Monica Ferrer Socorro

Publication Details

Journal: Neurology
Published: 2025-04-07
DOI: https://doi.org/10.1212/wnl.0000000000212394
Primary Topic: Genetics and Neurodevelopmental Disorders
Type: article
Field-Weighted Citation Impact: 0.00

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article

Bridging the Gap of CHD8-related Movement Disorders: Review of the Literature and a New Possible Case Due to a Novel Missense Variant (P8-5.025)

Melanie Li, Claire Miller, Giulietta Riboldi, Dena Hernandez et al.

Apr 7, 2025

Neurology

Genetics and Neurodevelopmental Disorders

article

Bridging the Gap of CHD8-related Movement Disorders: Review of the Literature and a New Possible Case Due to a Novel Missense Variant (P8-5.025)

Melanie Li, Claire Miller, Giulietta Riboldi, Dena Hernandez, Monica Ferrer Socorro

April 7, 2025article en

Abstract

To describe the movement disorder phenomenology in a 5-year-old female with a novel CHD8 missense variant compared to literature review.

NeurologyVol. 104(7_Supplement_1)

Gender equality

Openalex Percentile: Top 92%

Genetics and Neurodevelopmental Disorders

DOI Source OpenAlex

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Bridging the Gap of CHD8-related Movement Disorders: Review of the Literature and a New Possible Case Due to a Novel Missense Variant (P8-5.025) — Melanie Li, Claire Miller, et al. · Neurology (2025) | TGRS Research Map | TGRS