Johann te Water Naude

TL;DR: A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.

TL;DR: This new neurological disease, early-onset leukoencephalopathy with thalamus and brainstem involvement and high lactate, is hallmarked by unique magnetic resonance imaging features, defined by a peculiar biphasic clinical course and caused by mutations in a single gene, EARS2, expanding the list of medically relevant defects of mitochondrial DNA translation.

TL;DR: The results point toward a “disorganized” functional sensorimotor network in BECTS, supporting a neurodevelopmental delay in sensorim motor cortex, and suggest that investigating the variability of oscillatory peak frequency may be a useful tool to investigate deficits of disorganization in neuro developmental disorders.

TL;DR: Clinical understanding of these rare genomic disorders is added and SCN1A mutations as a cause of ID and epilepsy are highlighted, which can easily be overlooked in adults.

TL;DR: It is demonstrated that FHF2 variants are a cause of infantile-onset developmental and epileptic encephalopathy and underline the critical role of the F HF2A isoform in regulating Nav channel function.