Our team just published the results of advance brain image studies in three neurodevelopmental encephalopathies. We show the presence of shared and disease-specific brain alterations in SYNGAP1, GRINpathies, and STXBP1 disorders. Brain volumetry shows promise as a structural phenotyping tool to study disorders of #neurodevelopment Main highlights: •Brain imaging reveals hypothesis-generating patterns of structural deficit in glutamatergic synaptopathies. •Cerebellum and limbic regions show consistent volume loss across disorders compared to aged-matched templates. •Ventricular enlargement relates to greater cognitive, language and motor impairment. Júlia Romagosa Perez Juliana Ribeiro Constante Institut de Recerca Sant Joan de Déu https://lnkd.in/ePR927DU
Congratulations on this great work!
Very interesting!
Felicitaciones Angels y equipo! Qué bien que sigan contribuyendo al conocimiento de las sinaptopatias