Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.
Kenneth A MyersCarla MariniGemma Louise CarvillAmy McTagueJulie PanettaChloe Alice StutterdThorsten StanleySamantha MarinJohn NguyenCarmen BarbaAnna RosatiRichard H ScottHeather C MeffordRenzo GuerriniIngrid Eileen SchefferPublished in: Neurology. Genetics (2021)
MBD5 disruption may be associated with severe early childhood-onset developmental and epileptic encephalopathy. Because neuropsychiatric dysfunction is common and severe, it should be an important focus of clinical management.