This website provides information on patients with mutations in the YWHAG gene, including clinical data, molecular data, management and research options.
Developmental and Epileptic Encephalopathy 56 (#MIM 617665; DEE 56) caused by mutations in the YWHAG gene is a neurodevelopmental disorder characterized by early-onset seizures in most patients followed by variable degree of impaired intellectual development, behavioral abnormalities, and additional clinical features such as scoliosis, and ataxia.
Not all individuals with a mutation in the YWHAG gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the YWHAG gene.
Michelle Demos, MD, FRCPC, Pediatric Neurology and Neurogenetics, BC Children’s Hospital, Vancouver BC, Canada, firstname.lastname@example.org
Malavika Hebbar, PhD, Pediatric Neurology and Neurogenetics, BC Children’s Hospital, Vancouver BC, Canada, email@example.com
Shelin Adam, MSc, Department of Medical Genetics, BC Children’s Hospital, Vancouver BC, Canada, firstname.lastname@example.org