Related Experiment Video
Updated: Jun 22, 2026

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
Published on: May 22, 2020
A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism
Kristina Jülich1, Denise Horn, Peter Burfeind
1Department of Pediatric Neurology, Charité-University Medical Center, Berlin, Germany. kristina.juelich@charite.de
Abstract:
Methly-CpG-binding protein 2 (MECP2) mutations cause Rett syndrome in females. Here we report on a male infant with neonatal encephalopathy, myoclonic jerks, and irregular breathing patterns caused by a novel frameshift mutation in the MECP2 gene. In addition he has facial dysmorphisms previously not described in these patients.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
10:23Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023