Paediatrics
Paediatrics

Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathy

Nat Med. 2025 Apr 22. doi: 10.1038/s41591-025-03656-0. Online ahead of print. ABSTRACT Early-onset SCN2A developmental and epileptic encephalopathy is caused by SCN2A gain-of-function variants. Here …

A scan of pleiotropic immune mediated disease genes identifies novel determinants of baseline FVIII inhibitor status in hemophilia A

Genes Immun. 2025 Apr 22. doi: 10.1038/s41435-025-00325-7. Online ahead of print. ABSTRACT Hemophilia-A (HA) is the X-linked bleeding disorder caused by heterogeneous factor (F)VIII gene …

Metastatic medulloblastoma remodels the local leptomeningeal microenvironment to promote further metastatic colonization and growth

Nat Cell Biol. 2025 Apr 22. doi: 10.1038/s41556-025-01660-7. Online ahead of print. ABSTRACT Leptomeningeal metastases are the major source of morbidity and mortality for patients …

Associations among white matter microstructural changes and the development of emotional reactivity and regulation in infancy

Mol Psychiatry. 2025 Apr 23. doi: 10.1038/s41380-025-03025-w. Online ahead of print. ABSTRACT Deficits in emotional reactivity and regulation assessed in infancy, including high levels of …