Rasmussen's encephalitis is a rare chronic neurological disorder, characterised by
unilateral inflammation of the cerebral cortex, drug-resistant epilepsy, and progressive …

Glutaric aciduria type I is an inborn error of organic acid metabolism that demonstrates a
particular temporal vulnerability (acute encephalopathic episodes in infancy) and a spatial …

Seizures may be the first and the major presenting feature of an inborn error of metabolism
(IEM), for example in a neonate with pyridoxine‐dependent epilepsy. In other IEMs, seizures …

Recent reports of autoantibodies that bind to neuronal surface receptors or synaptic proteins
have defined treatable forms of autoimmune encephalitis. Despite these developments …

Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1
gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine …

Objective To gain insight into the long‐term impact of vagus nerve stimulation (with VNS
Therapy) in children with drug‐resistant epilepsy, we conducted the largest retrospective …

The first described patients with pyridox (am) ine 5'-phosphate oxidase deficiency all had
neonatal onset seizures that did not respond to treatment with pyridoxine but responded to …

Background Fibrinogen replacement is critical in major obstetric haemorrhage (MOH).
Purified, pasteurised fibrinogen concentrate appears to have benefit over cryoprecipitate in …

Objective To characterize the neurologic phenotypes associated with COL4A1/2 mutations
and to seek genotype–phenotype correlation. Methods We analyzed clinical, EEG, and …

Abstract Objective To profile European trends in pediatric epilepsy surgery (< 16 years of
age) between 2008 and 2015. Methods We collected information on volumes and types of …