Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of
STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and …

Population isolates such as those in Finland benefit genetic research because deleterious
alleles are often concentrated on a small number of low-frequency variants (0.1%≤ minor …

Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

Population isolates such as Finland provide benefits in genetic studies because the allelic
spectrum of damaging alleles in any gene is often concentrated on a small number of low …

Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known
about genetic differences between NDDs with and without epilepsy. We analyzed de novo …

Background We aimed for a comprehensive delineation of genetic, functional and
phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of …

Alterations of the N-methyl-d-aspartate receptor (NMDAR) subunit GluN2A, encoded by
GRIN2A, have been associated with a spectrum of neurodevelopmental disorders with …

Objective: To determine the phenotypic spectrum caused by mutations in GRIN1 encoding
the NMDA receptor subunit GluN1 and to investigate their underlying functional …

We report detailed functional analyses and genotype-phenotype correlations in 392
individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ …

The hepatitis B virus (HBV) is one of the most widespread human pathogens known today,
yet its origin and evolutionary history are still unclear and controversial. Here, we report the …