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Rare Epilepsies

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A variety of rare diseases and syndromes involve epileptic seizures. The presence of increased neuronal activity in those affected is correlated with severe brain dysfunction that comes with serious consequences as a result of epileptic encephalopathy.

Refractory epilepsies are types of epilepsy in which seizures cannot be adequately controlled using current anti-seizure medication. Refractory epilepsy is estimated to be present in 30% of people with epilepsy.

Rare and complex epilepsies make up a range of syndromes and epilepsies characterized by their high degree of severity and mortality and significant presence in infants, in whom controlling the disease is exceedingly difficult.

While multiple diseases share the commonality of involving epileptic seizures, it is not appropriate to speak of a single type of epilepsy but rather different epilepsies with different causes and features. As a result, different treatments are required even though patients tend to have similar needs and require similar care.

For information purposes, examples of some epileptic encephalopathies, epileptic syndromes or diseases could include Dravet syndrome, West syndrome, tuberous sclerosis, Lennox-Gastaut syndrome, PCDH19 gene mutation, Rett syndrome, Rasmussen syndrome, GLUT1 deficiency syndrome and more.

Scientific and medical advances in the field of rare epilepsies can offer tangible benefits for improving quality of life, in the ultimate goal of curing patients of a variety of related diseases.