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Epilepsy
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Donald C. Barr, Andres M. Kanner
Genetic factors are being recognized as very important pathogenic mechanisms in various types of epilepsy syndromes. Genetic disturbances may be associated with generalized epilepsies (e.g. idiopathic generalized epilepsies) or epilepsies of focal origin (e.g. adult nocturnal frontal lobe epilepsy or familial TLE). Genetic disturbances associated with a progressive encephalopathic process may lead to treatment-resistant epilepsies (e.g. progressive myoclonic epilepsies), while those that occur in the absence of an encephalopathic process are often identified in epilepsies of benign prognosis (e.g. idiopathic generalized epilepsy presenting as childhood absence epilepsy or juvenile myoclonic epilepsy [JME]).
Generalized Epilepsies
Published in Stanley R. Resor, Henn Kutt, The Medical Treatment of Epilepsy, 2020
Onset of this syndrome generally occurs in the second decade of life. GTCSs occur predominantly or exclusively on awakening, regardless of the time of day. There is often a second peak in the evening relaxation period. Concomitant seizures are usually in the form of absences or myoclonic jerks such as those observed in CAE and JAE as well as in JME. The seizures may be precipitated by sleep deprivation and other external factors (118). “The EEG shows one of the patterns of idiopathic generalized epilepsy, and there is a significant correlation with photosensitivity” (1).
Withdrawal of antiseizure medications – for whom, when, and how?
Published in Expert Review of Neurotherapeutics, 2023
Francesco Brigo, Serena Broggi, Simona Lattanzi
Patients with some idiopathic generalized epilepsy syndromes, particularly if not age-dependent, usually require long-lasting treatment with ASMs. However, a recent systematic review has explored prognostic factors of an unsuccessful ASMs withdrawal to identify patients affected by juvenile myoclonic epilepsy with a higher probability of seizure recurrence after attempting ASMs withdrawal [33]. The results of this analysis were summarized in a nomogram, that was validated in a subset of patients. Among nine proposed independent predictors, only three were significantly associated with a higher risk of recurrence: earlier age at the start of withdrawal (HRR 0.96, 95% CI: 0.95 to 0.98; p < 0.0001), shorter seizure-free interval (HRR 0.58, 95% CI: 0.46 to 0.74; p < 0.0001), and the number of used ASMs (HRR 1.36, 95% CI: 1.01 to 1.82); p = 0.045) [33].
Heterozygous missense mutation of the RELN gene is one of the causes of epilepsy
Published in Neurological Research, 2022
Xi-Qin Fang, Ran-Ran Zhang, Xue-Wu Liu
Considering that the patient’s genetic mutation originated from his father and the clinical manifestations of generalized tonic-clonic seizures (GTCS), we diagnosed him with genetic generalized epilepsy (GGE), also known as idiopathic generalized epilepsy. GGE is a common type of generalized epilepsy that consists of four epilepsy syndromes: childhood absence seizures, juvenile absence seizures, juvenile myoclonic seizures, and GTCS alone [5]. GGE accounts for 20–30% of patients with epilepsy [6], and antiepileptic drugs are effective in the treatment of approximately 70–80% of patients with GGE [7,8]. Through gene sequencing of the blood samples obtained, it was confirmed that the patient and his grandmother carried the same mutation at the chr7-103,155,842 locus. Since his mother had no mutation at the same locus, even if the father was not tested, it can be inferred that the patient’s mutation is caused by paternal inheritance, and patients presenting as GTCS during sleep are prone to sudden unexpected death in epilepsy [9]. Therefore, active treatment is necessary for these patients.
Cortical excitability in epilepsy and the impact of antiepileptic drugs: transcranial magnetic stimulation applications
Published in Expert Review of Neurotherapeutics, 2020
Primary generalized epilepsies are a spectrum of epilepsy types and syndromes of unknown or presumed genetic etiology. They occur at any age but frequently in adults and children and characterized by bilateral generalized seizures and are always associated with loss of consciousness. Manifestations are age-dependent, and seizure types include generalized tonic-clonic, absence, myoclonic, and potentially atonic and tonic. Generalized seizures also occur in various seizure syndromes (e.g. idiopathic generalized epilepsy, absence epilepsy, and myoclonic epilepsy). Primary generalized seizures probably begin in the thalamus and other subcortical structures, but on EEG recordings, they may appear to start simultaneously in both cerebral hemispheres [32]. Studies hypothesized that the generalized spike-wave discharges in primary generalized epilepsy are triggered by inhibition of GABAA-mediated circuits and activation of thalamic GABABRs–mediated IPSPs [33]. In absence of epilepsy, many animal studies found defective thalamic GABAARs and preserved thalamic GABABRs [33], and the spike-wave discharges found in EEG are mediated by the combined effects of activation of extra-synaptic and post-synaptic GABAARs and GABABRs respectively as well as GABABRs–dependent facilitation of extra-synaptic GABAARs [34]. In myoclonic epilepsy, the neural dysfunctions are located at various anatomical levels within the central nervous system, including the motor cortices. Studies found that altered state of cortical disinhibition of the motor system is the cause of myoclonic jerks [7] and cortical excitability is higher in myoclonic epilepsy compared to other types of generalized epilepsies [35].