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Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Childhood myoclonic epilepsy: Dravet's syndrome.Myoclonic astatic epilepsy (Lennox–Gastaut).Juvenile myoclonic epilepsy (of Janz).
Sulthiame
Published in Stanley R. Resor, Henn Kutt, The Medical Treatment of Epilepsy, 2020
Wolfgang K. Baier, Herman Doose
As mentioned above, Ingram and Ratcliffe (10) and Bray and Brower (11) in 1963 had reported favorable results using sulthiame to treat patients with myoclonic seizures. In the early 1970s Lerman and Nussbaum (16) studied 52 patients with myoclonic seizures (Lennox-Gastaut syndrome, myoclonic petit mal, juvenile myoclonic epilepsy). The seizures of 83% of this heterogeneous sample were controlled or considerably improved on sulthiame used alone or in combination with other AEDs. Among these 52 patients were 12 with juvenile myoclonic epilepsy. With the addition of sulthiame, all 12 were ultimately rendered seizure-free, 8 on sulthiame alone. This remarkably positive response led the authors to propose sulthiame as the treatment of choice for juvenile myoclonic epilepsy, a recommendation not widely followed.
Classification of The Epilepsies
Published in Carl L. Faingold, Gerhard H. Fromm, Drugs for Control of Epilepsy:, 2019
Henri Gastaut, Benjamin G. Zifkin
Depending on the seizure pattern (typical or petit mal absences, typical or massive bilateral myoclonus, or generalized convulsions, chiefly tonic-clonic or grand mal seizures), the age-related primary generalized epilepsies can be divided into11,20,21Primary absence epilepsies: (a) Childhood absence epilepsy (pyknolepsy); (b) juvenile absence epilepsyPrimary myoclonic epilepsies: (a) benign infantile myoclonic epilepsy; (b) benign childhood myoclonic epilepsy; (c) benign juvenile myoclonic epilepsy (impulsive petit mal)Primary convulsive epilepsies: (a) benign neonatal convulsions; (b) benign neonatal familial convulsions; (c) tonic and/or clonic epilepsies in infancy and childhood; (d) tonic-clonic epilepsy in childhood and adolescence
Retinal ganglion cell complex and visual evoked potentials in levetiracetam treatment
Published in Cutaneous and Ocular Toxicology, 2020
Dicle Hazirolan, Melih Duman, Selda Keskin Guler, Guner Uney, Firdevs Ornek
Levetiracetam is a broad-spectrum, second-generation AED. It is most commonly approved as adjunctive treatment or monotherapy of partial onset seizures with or without secondary generalisation. Other approved indications include adjunctive treatment of myoclonic seizures associated with juvenile myoclonic epilepsy and primary generalised tonic-clonic seizures associated with idiopathic generalised epilepsy1. It is a pyrolidone derivative and has a unique mechanisms of action. Unlike other AEDs, the mechanisms of action of levetiracetam appear to involve neuronal binding to synaptic vesicle protein 2 A, inhibiting calcium release from intraneuronal stores, opposing the activity of negative modulators of GABA- and glycin-gated currents and inhibiting excessive synchronised activity between neurons1. In addition, levetiracetam also inhibits N-type calcium channels1.
Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era
Published in Journal of Neurogenetics, 2018
Jeffrey D. Calhoun, Gemma L. Carvill
Prior to the NGS era, AR gene discovery approaches primarily involved linkage analysis in large families or homozygosity mapping in consanguineous families, followed by candidate gene resequencing in the refined genomic interval (Figure 1(B)). For instance, TBC1D24 was first implicated in epilepsy in a large family with idiopathic myoclonic epilepsy of infancy that appeared to segregate in a recessive fashion (Falace et al., 2010; Zara et al., 2000). Linkage analysis mapped the genomic interval to 16p13.3 and subsequent candidate gene sequencing identified compound heterozygous TBC1D24 variants in affected individuals. Since then, TBC1D24 pathogenic variants have been reported in patients with a wide phenotypic spectrum, including benign myoclonic epilepsy, as well as epileptic encephalopathy with developmental delay and risk of sudden death, some patients also have deafness (Balestrini et al., 2016).
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].