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The typical brain sample is a surgical specimen, a brain sample obtained during epilepsy surgery. [1] The International League Against Epilepsy (ILAE) defines 3 hippocampal sclerosis (HS) types: predominant neuronal cell loss in subfields CA1 and CA4 (HS ILAE type 1), subfield CA1 (HS ILAE type 2) or subfield CA4 (HS ILAE type 3).
In Unverricht-Lundborg disease (ULD) the age of onset is between 6–15 years, while in Adult Neuronal ceroid lipofuscinoses (Adult NCL) the age of onset can be as late as 30. [2] Symptoms often include action or stimuli induced myoclonus, seizures, neuropathy, cognitive decline, and spike and wave or no cerebral discharges. [4]
Myoclonic astatic epilepsy (MAE), also known as myoclonic atonic epilepsy or Doose syndrome, and renamed "Epilepsy with myoclonic-atonic seizures" in the ILAE 2017 classification, is a generalized idiopathic epilepsy. It is characterized by the development of myoclonic seizures and/or myoclonic astatic seizures. Some of the common monogenic ...
Onset of the disease is characterized by myoclonic jerks and tonic-clonic seizures. [7] Early cases often resulted in the need of a wheelchair and death before the age of 24, [8] but new treatments and medications have increased the life expectancy of individuals with ULD, in some cases even to near that of an unaffected individual. [7]
This 2014 definition of the International League Against Epilepsy [10] (ILAE) is a clarification of the ILAE 2005 conceptual definition, according to which epilepsy is "a disorder of the brain characterized by an enduring predisposition to generate epileptic seizures and by the neurobiologic, cognitive, psychological, and social consequences of ...
Lafora disease is a rare, autosomal recessive [4] genetic disorder which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells.