Background The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) (OMIM 225400)
is a rare inheritable connective tissue disorder characterized by a deficiency of collagen lysyl …

Mycoplasma pneumoniae is an important pathogen which causes nervous system disorders
during or after the course of a respiratory tract infection. The exact pathogenic mechanism …

Molybdenum cofactor deficiency is a rare inborn error of metabolism. The major clinical
symptoms are intractable neonatal seizures, progressive encephalopathy, facial dysmorphic …

Infantile hereditary lower motor neuron disorders beyond 5q–spinal muscular atrophy (5q‐SMA)
are usually caused by mutations other than deletions or mutations in SMN1. In addition …

Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant,
fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain …

Myotubular myopathy and centronuclear myopathies (CNM) are congenital myopathies
characterized by generalized muscle weakness and mislocalization of muscle fiber nuclei. …

Objective We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1
mutations and to investigate genotype–phenotype correlations. Methods We sequenced …

Importance Knowing the range of symptoms seen in patients with a missense or loss-of-function
variant inKCNB1and how these symptoms correlate with the type of variant will help …

Metoclopramide is a dopamine antagonist that is widely used in gastroesophageal disease
and chemotherapy-induced emesis in the paediatric population. It is also prescribed in …

ADP-ribosylation, the addition of poly-ADP ribose (PAR) onto proteins, is a response signal
to cellular challenges, such as excitotoxicity or oxidative stress. This process is catalyzed by …