Filip Roelens

TL;DR: This study investigated whether KCNQ2/3 mutations are a frequent cause of epileptic encephalopathies with an early onset and whether a recognizable phenotype exists.

TL;DR: Electrophysiological data showed in the majority of patients normal to slightly reduced nerve conduction velocities with often severely reduced amplitudes of the compound motor and sensory nerve action potentials, whereas a smaller group experienced a later onset and milder disease course.

TL;DR: This work extensively characterized, at the clinical, cellular, and molecular levels, 49 patients with onset in the first 2 years of life to investigate genotype‐phenotype correlations.

TL;DR: For the first time, a genotype–phenotype correlation is reported demonstrating that heterozygous glycine substitutions in the triple‐helix domain of COL6A1 are dominant and responsible for a milder Ullrich scleroatonic muscular dystrophy phenotype, and that recessive mutations in COL 6A1 correlate with more severe clinical and biochemical UllRich sclerosine muscular Dystrophy phenotypes.

TL;DR: The presence of cobblestone-like malformation in patients with bi-allelic COL3A1 mutations emphasises the critical role of the type III collagen–GPR56 axis and the pial membrane in the regulation of brain development and cortical lamination.