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Also known as Janz syndrome, juvenile myoclonic epilepsy (JME) is a common form of epilepsy, accounting for ~10% of all cases and ~25% of cases of idiopathic generalized epilepsies. Many children with CAE go on to develop JME. JME first presents between the ages of 12 and 18 with prominent myoclonic seizures.
Epilepsy is present in the majority of cases, with approximately 80-98% of patients affected by seizures. [8] Truncal hypotonia and clumsy or ataxic gait are typical. [5] Behavioral and sleep problems are also common. [9] [10] Approximately 50% of patients receive a diagnosis of autism spectrum disorder. [8] Some patients have significant ...
Generalized epilepsy is a form of epilepsy characterised by generalised seizures with no apparent cause. [1] Generalized seizures, as opposed to focal seizures, are a type of seizure that impairs consciousness and distorts the electrical activity of the whole or a larger portion of the brain (which can be seen, for example, on electroencephalography, EEG).
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 ...
Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where affected individuals can exhibit numerous epilepsy phenotypes. [1] GEFS+ can persist beyond early childhood (i.e., 6 years of age).
Syndromes are characterized into 4 groups based on epilepsy type: [1] a. Generalized onset epilepsy syndromes. These epilepsy syndromes have only generalized-onset seizures and include both the idiopathic generalized epilepsies (specifically childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with generalized tonic- clonic seizures alone), as well as ...
For patients who are confirmed to have epilepsy, this testing helps further elucidate the type of epilepsy (generalized vs focal), type of seizures (atonic, absence, GTC, etc.), and can be used for pre-surgical evaluation or to guide further management.
A generalized tonic–clonic seizure, commonly known as a grand mal seizure or GTCS, [1] is a type of generalized seizure that produces bilateral, convulsive tonic and clonic muscle contractions. Tonic–clonic seizures are the seizure type most commonly associated with epilepsy and seizures in general and the most common seizure associated ...