Seizures with fever. Most times when we discussed seizures in the setting of fever on our blog, we either referred to simple Febrile Seizures or genetic syndromes such as Dravet Syndrome, which characteristically present with fever-associated seizures. However, if a child or an adult presents with a first seizure in the setting of a febrile illness and shows recurrent seizures or does not get back to baseline quickly, we are usually concerned about infections of the brain. Herpes simplex virus (HSV) encephalitis is one of the more common infections, which may result in significant impairment if not treated rapidly. A recent publication in Neurology reminds us of the genetic susceptibility of HSV encephalitis and suggests that predisposing genetic alterations can be found in an appreciable number of patients. Continue reading
Tag Archives: symptomatic epilepsies
Sturge-Weber syndrome explained – somatic mutations in GNAQ
Phakomatoses. There are a group of disorders that affect both the skin and the central nervous system. These disorders, called neurocutaneous disorders or phakomatoses, may result in epilepsy or intellectual disability, depending on the extent to which the brain is affected. While a genetic basis for some neurocutaneous disorders including Tuberous Sclerosis Complex (TSC) and neurofibromatosis is known, the etiology of other neurocutaneous diseases remains unknown. Now, a recent paper in the New England Journal of Medicine reports on the genetic alterations underlying one of the most common neurocutaneous disorders, Sturge-Weber syndrome. Continue reading