Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder.

Background: Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic abnormalities in individuals with Down syndrome regression disorder and determined if abnormalities are indicative of responses to therapeutic intervention.

Methods: A retrospective, multi-center, case-control study was performed.

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.

Rare de novo mutations of sodium channels are thought to be an important cause of sporadic epilepsy. The well established role of de novo mutations of sodium channel SCN1A in Dravet Syndrome supports this view, but the etiology of many cases of epileptic encephalopathy remains unknown. We sought to identify the genetic cause in a patient with early onset epileptic encephalopathy by whole exome sequencing of genomic DNA.

Myotonia congenita and myotonic dystrophy: surveillance and management.

Myotonia can be treated both pharmacologically and by lifestyle modifications. Cell membrane stabilizers are the medications most commonly used for symptomatic treatment of myotonia. Most patients do not require treatment for the myotonia itself, unless it is severe, but physicians must be aware of anesthesia risks in both myotonia congenita and myotonic dystrophy.