hyperekplexia/セロトニン

To control the breathing rhythm the medullary respiratory network generates periodic salvo activities for inspiration, post-inspiration and expiration. These are under permanent modulatory control by serotonergic neurons of the raphe which governs the degree of phosphorylation of the inhibitory

Rhythmic breathing movements originate from a dispersed neuronal network in the medulla and pons. Here, we demonstrate that rhythmic activity of this respiratory network is affected by the phosphorylation status of the inhibitory glycine receptor α3 subtype (GlyRα3), which controls glutamatergic and

Glycine receptors (GlyRs) are chloride-permeable pentameric ligand-gated ion channels. The inhibitory activity of GlyRs is essential for many physiological processes, such as motor control and respiration. In addition, several pathological states, such as hyperekplexia, epilepsy, and chronic pain,

Neurology still remains one of the most underserved specialties of medicine in Pakistan with roughly one neurologist per million people. Movement disorders (MD) are neurological problems that interfere with patient's motor abilities and diagnosis is typically clinical. In this review, we describe a

Coffin-Lowry syndrome is a well-defined clinical entity classically associated with moderate to severe mental retardation, characteristic facial features, skeletal deformities, and tapering fingers. A characteristic paroxysmal disorder was described in up to 10% patients with Coffin-Lowry syndrome,

The strychnine-sensitive glycine receptor is the principal mediator of fast inhibitory synaptic transmission in the mammalian spinal cord and brain stem. As a member of the ligand-gated ion-channel family, it shares structural homology with the nicotinic acetylcholine, GABA(A/C) and serotonin

The human genome encodes 19 genes of the solute carrier 6 (SLC6) family; non-synonymous changes in the coding sequence give rise to mutated transporters, which are misfolded and thus cause diseases in the affected individuals. Prominent examples include mutations in the transporters for dopamine