Aida Telegrafi

TL;DR: The role of monogenic variants across the range of dystonic disorders is determined, providing guidance for the introduction of personalised care strategies and fostering follow-up pathophysiological explorations.

TL;DR: The first disease association of rare recessive VPS13D variants including frameshift, missense, and partial duplication mutations with a novel complex, hyperkinetic neurological disorder is described.

TL;DR: Six females from independent families with a common neurodevelopmental phenotype including developmental delay, intellectual disability, autism, hypotonia, and seizures are identified with de novo predicted deleterious variants in the nuclear localization signal of Heterogeneous Nuclear Ribonucleoprotein H2, encoded by HNRNPH2, a gene located on the X chromosome.

TL;DR: The clinical phenotype of ASCT1 deficiency is reminiscent of defects in L-serine biosynthesis, and the data underscore that AsCT1 is essential in brain serine transport.

TL;DR: In this paper, the authors identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals, characterized by epilepsy, global developmental delay with or without autism, common cerebellar dysgenesis, and facial dysmorphism.