Calcineurin is a calcium (Ca2+)/calmodulin-regulated protein phosphatase that mediates
Ca2+-dependent signal transduction. Here, we report six heterozygous mutations in a gene …

An increasing body of literature data suggests that inflammation, and in particular
neuroinflammation, is involved in the pathophysiology of particular forms of epilepsy and …

Background Hormonal therapy is the treatment of choice in most patients with infantile
spasms, but the optimal way to provide this therapy is unclear. Intramuscular …

Infantile spasms (IS) is a typical childhood epileptic disorder with generalized seizures. The
sudden, frequent and complex characteristics of infantile spasms are the main causes of …

Early diagnosis and treatment are critical for young children with infantile spasms (IS), as
this maximizes the possibility of the best possible child-specific outcome. However, there are …

Summary Dynamin 1 (DNM 1) is a large guanosine triphosphatase involved in clathrin‐
mediated endocytosis. In recent studies, de novo mutations in DNM 1 have been identified …

Seizures and epilepsy are some of the most common serious neurological disorders, with
approximately 80% of patients living in developing/underdeveloped countries. However …

Hormone therapies and vigabatrin are first-line agents in infantile spasms, but more than
one-third of patients fail to respond to these treatments. This was a retrospective study of …

Background Severe infantile vitamin B12 deficiency is occasionally reported in developed
countries due to maternal nutritional deficiency. The clinical manifestation comprises …

Infantile spasms syndrome is an epileptic encephalopathy in which prompt diagnosis and
treatment initiation are critical to therapeutic response. Diagnosis of the disease heavily …