Targeted syndrom under study
YWHAG (OMIM#617665)
Abstract
YWHAG-related disorders were described for the first time in 2017 by Guella and collaborators. YWHAG-related disorders are also known as developmental and epileptic encephalopathy, 56. This disorder is characterized by seizures of multiple types, including status epilepticus, delayed psychomotor development or intellectual disability, poor language and poor coordination, wide-based gait, ataxia, and videoEEG abnormalities. Patients also demonstrated behavioral and psychiatric manifestations, including autistic features, attention deficit, anxiety, and obsessive-compulsive traits. Onset of symptoms is usually in the first year of life. Multiple antiseizure medications with limited efficacy have been administered to patients, and in some cases, a ketogenic diet has been tried.
The aim of this project is to identify new individuals with YWHAG-related disorders and update the clinical phenotype for a better genotype phenotype correlation.
Coordinating clinicians/researchers
Juan Darío Ortigoza-Escobar, MD, PhD – juandario.ortigoza@sjd.es
Eugenia Amato, MD – mariaeugenia.amato@sjd.es
Institution
Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: No