Our old genome. When talking about seizures and genes, “malaria” is usually not the first thing that comes to mind. However, malaria-associated seizures are a major cause of neurological disability in Sub-Saharan Africa. Given the frequency of malaria infections on a worldwide scale, Plasmodium falciparum, the parasite causing malaria, is probably one of the most frequent causes of acute seizures. Our genome has adapted to dealing with parasites over evolutionary time and several disease-causing mutations are thought to be relatively frequent, as they also confer resistance to malaria. For malaria-associated seizures, family studies show an increase in epilepsy in relatives, suggesting that these parasite-induced epileptic seizures may also have a genetic predisposition. A recent study in Epilepsia now investigates malaria candidate polymorphisms as genetic risk factors for malaria-associated seizures. Continue reading
Tag Archives: febrile seizures
FS and FS+ are two distinct diseases, as suggested by twins
GEFS+ reloaded. The genetics of Febrile Seizures (FS) is one big mystery. Even though large families have been reported and multiple linkage studies have been performed, no single susceptibility gene for Febrile Seizures is known. This is somehow surprising, given that FS is by far the most common epilepsy syndrome. In contrast to common FS, genetic research has been very successful in families with Genetic Epilepsy with Febrile Seizures Plus (GEFS+), where Febrile Seizures Plus (FS+) are the most striking feature in families. Ever since the definition of the GEFS+ spectrum was established, the distinction from common FS has been a matter of debate. Now a twin study in Epilepsy Research suggests FS and FS+ might actually be two very distinct diseases with little genetic overlap. Continue reading
CACNA1A variants as genetic modifiers in Dravet Syndrome
Genetic modifiers. Dravet Syndrome, formerly Severe Myoclonic Epilepsy of Infancy (SMEI) is a severe epileptic encephalopathy starting in the first year of life. More than 80% of cases of Dravet Syndrome are caused by loss-of-functions mutations in SCN1A, a voltage-gated sodium channel predominantly expressed on GABAergic interneurons. Now, a recent paper in Neurobiological Disorders investigates the role of CACNA1A variants as possible genetic modifiers in Dravet Syndrome. Continue reading
