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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).
Status Epilepticus
Published in Stanley R. Resor, Henn Kutt, The Medical Treatment of Epilepsy, 2020
Generalized myoclonic SE consists of frequently repeated generalized brief muscular contractions. Such seizures may evolve to clonic-tonic-clonic or generalized clonic SE. Myoclonic status is most commonly seen in the primary generalized myoclonic astatic epilepsy of Doose, the juvenile myoclonic epilepsy of Janz, the heredofamilial progressive myoclonic encephalopathies of Lafora and Kuf, and in renal encephalopathies, dialysis dementia, and severe cerebral anoxia.
Fragile X and X-linked Mental Retardation
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Jacquemont Sebastien, Hagerman Randi, des Portes Vincent
After the cloning of the fragile X (FMR1 and FMR2) genes, Oligophrenin-1 (OPHN-1) was the first new “MRX” gene to be identified in “nonspecific” MR (60). In order to identify specific clinical and radiological characteristics associated with the OPHN-1 gene, affected subjects published by Billuart et al. (60) were revisited. Clinical and 3D brain MRI studies were performed in a female with an X;12-balanced translocations encompassing OPHN-1, and four affected males of family MRX 60 sharing a frameshift mutation in OPHN-1, leading to the description of a new distinctive phenotype (61). Clinical data shared by affected individuals were neonatal hypotonia with motor delay but no obvious ataxia in adults, marked strabismus, early onset complex partial seizures, and moderate to severe MR. Brain MRIs exhibited a specific vermian dysgenesis including an incomplete sulcation of the anterior and posterior vermis with the most prominent defect in lobules VI and VII. In addition, a nonspecific cerebral fronto-temporal atrophy was also observed with enlarged lateral ventricles. Concurrently, two independent groups published similar clinical and radiological features in three unrelated families (62,63). In Bergman et al. (62), myoclonic-astatic epilepsy, ataxia, and hypogenitalism were also observed. Philip et al. (63) also noticed in a large family macrocephaly in males and mildly affected obligate carriers. Interestingly, the partial vermian agenesis can be isolated (61) or associated with a large cisterna magna (63). This clinical presentation will be helpful for further targeted mutation screening of the OPHN-1 gene.
An Update on Myoclonus Management
Published in Expert Review of Neurotherapeutics, 2019
Christine M. Stahl, Steven J. Frucht
Myoclonus is not uncommon, and the etiologies are diverse. Broadly, the various etiologies are divided into four categories: physiologic, essential, epileptic, and symptomatic [2]. Physiologic myoclonus such as hiccups and hypnic jerks occurs in normal individuals, is benign, and rarely requires treatment. Essential myoclonus is a condition of multifocal myoclonus not associated with seizures, dementia or neurodegeneration. The most recognized modern form of essential myoclonus is myoclonus-dystonia, which has been linked in many patients to a pathogenic autosomal dominant mutation in the ε-sarcoglycan gene on chromosome 7 [3]. Epileptic myoclonus includes those conditions where both seizures and myoclonus are present. There is an association between the myoclonic jerk seen clinically and an epileptic polyspike or spike-wave discharge on EEG. These disorders tend to affect children and are often progressive and associated with generalized seizures and cognitive impairment. Examples include the progressive myoclonic epilepsies (PME), severe myoclonic epilepsy of infancy (Dravet syndrome), myoclonic astatic epilepsy (Doose syndrome), childhood absence epilepsy, and juvenile myoclonic epilepsy. The most common type of myoclonus is symptomatic myoclonus, meaning the myoclonus is secondary to some other neurologic or medical condition. The etiologies of symptomatic myoclonus are varied and include drug/toxin-induced, posthypoxic, infectious, and neoplasms/paraneoplastic myoclonus, as well as progressive myoclonic epilepsies, and myoclonus associated with metabolic disturbances, storage diseases, and other neurodegenerative disorders.
Interactions of antiepileptic drugs with drugs approved for the treatment of indications other than epilepsy
Published in Expert Review of Clinical Pharmacology, 2020
Kinga K. Borowicz-Reutt, Stanisław J. Czuczwar, Marta Rusek
Beneficial effects of some non-barbiturate injectable anesthetics were also reported in patients with epilepsy. For instance, ketamine exhibited significant effectiveness and safety in the treatment of multidrug-resistant status epilepticus in children and adults [98]. In 5 children, presenting one of the most severe forms of epilepsy (Lennox-Gastaut syndrome, myoclonic-astatic epilepsy, progressive myoclonic epilepsy or pseudo-Lennox syndrome), ketamine was infused during an episode of non-convulsive status epilepticus. In all of the cases, reversal of both clinical symptoms and electroencephalographical signs was observed within 24–48 hours of therapy. Furthermore, no related undesired effects were noticed [99].
Personalized treatment in the epilepsies: challenges and opportunities
Published in Expert Review of Precision Medicine and Drug Development, 2018
Simona Balestrini, Sanjay M Sisodiya
Variable expressivity, when the same gene, allele, or mutation in a single gene can produce different epilepsy phenotypes in different individuals, typically in a family, is also likely due to modifying effects of other genes or environmental factors. For example, in a family with generalized epilepsy with febrile seizures plus, a single mutation in SCN1A was associated with a broad phenotypic spectrum including typical febrile seizures, febrile seizures plus (i.e. febrile seizures persisting beyond age six or accompanied by afebrile generalized tonic seizures), idiopathic generalized epilepsy, temporal lobe epilepsy, myoclonic-astatic epilepsy, or Dravet syndrome [35].