Juvenile myoclonic epilepsy: A system disorder of the brain

Wolf, Peter; Yacubian, Elza Márcia Targas; Avanzini, G.; Sander, Thomas; Schmitz, Bettina; Wandschneider, Britta; Koepp, Matthias J.

doi:10.1016/j.eplepsyres.2015.04.008

Cited by 97 publications

(92 citation statements)

References 111 publications

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“…This underscores the importance of asking specifically about MJs in young patients with GTCSs of unknown cause. A precise diagnosis of JME is of utmost importance, as it directly influences choice of treatment, prognosis, and need for follow‐up, and probably predicts a need for special attention regarding social and behavioral challenges in some of the patients …”

Section: Discussionmentioning

confidence: 99%

Prevalence of juvenile myoclonic epilepsy in people <30 years of age—A population‐based study in Norway

et al. 2016

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A substantial portion of people with JME seem to go undiagnosed, as was the case for more than one third of the subjects in this study. By investigating subjects diagnosed with unspecified genetic generalized epilepsy or absence epilepsy, we found a prevalence of JME that was considerably higher than previously reported. We conclude that JME may go undiagnosed due to the underrecognition of myoclonic jerks. To make a correct diagnosis, clinicians need to ask specifically about myoclonic jerks.

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Section: Discussionmentioning

confidence: 99%

Prevalence of juvenile myoclonic epilepsy in people <30 years of age—A population‐based study in Norway

et al. 2016

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“…As in humans, jerks are bilateral, arrhythmic, at times asymmetric, and predominate upon the upper limbs and trunk (20,21), whereby additional nodding movements of the head were present in some RRs. EEG recordings revealed a pattern found in human JME patients: SW or PSW discharges with a fronto-central accentuation and a normal background activity with an occasional occurrence of focal activity, EEG asymmetries switching sides, and diffuse or intermittent slowing (22,24,25). An important characteristic shared by human JME and generalized myoclonic epilepsy in RRs is the manifestation with photosensitivity, particularly as JME has one of the strongest associations with photosensitivity among all epilepsies (26,27).…”

Section: Discussionmentioning

confidence: 99%

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

Wielaender

Sarviaho

James

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

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The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described. A fully penetrant recessive 4-bp deletion was identified in the DIRAS family GTPase 1 (DIRAS1) gene with an altered expression pattern of DIRAS1 protein in the affected brain. This neuronal DIRAS1 gene with a proposed role in cholinergic transmission provides not only a candidate for human myoclonic epilepsy but also insights into the disease etiology, while establishing a spontaneous model for future intervention studies and functional characterization.seizure | juvenile | canine | photosensitivity | Ras

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“…JME may also exhibit facial myoclonia, generalized slow poly-spikes and waves and generalized tonic-clonic seizures. However, the age of onset (mainly teens), good response to antiepileptic drugs and low frequency of absences [8] do not match the features of our patient.…”

Section: Discussionmentioning

confidence: 47%

“…Poor response to antiepileptic drugs for absences with perioral myoclonia is also compatible with PMA. Facial myoclonic manifestations associated with generalized spike and wave components have been reported in childhood absence epilepsy (CAE), epilepsy with myoclonic absences (EMA), eyelid myoclonia with absences (Jeavons syndrome), juvenile myoclonic epilepsy (JME), LennoxGastaut syndrome (LGS), and PMA [5][6][7][8][9]. In CAE, perioral myoclonia is present in some cases but is not pre-eminent, and ictal EEG and prognosis are different from those reported for PMA [5] and in our patient.…”

Section: Discussionmentioning

confidence: 99%

The efficacy of lamotrigine for atypical absence status epilepticus in a case of perioral myoclonia with absence

Takezawa

Kakisaka

Wakusawa

et al. 2016

E&S

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Perioral myoclonia with absences, which is currently not recognized officially by the International League Against Epilepsy classification, is generalized epilepsy characterized by short absences with constant rhythmic contraction of the perioral muscles. The long-term outcome and features of this disease are not clear. We describe a patient with perioral myoclonia with absences, brief axial tonic seizures, and atypical absence status epilepticus, who was followed for 21 years. The efficacy of lamotrigine in this case was remarkable. This report suggests that when clinicians see a patient with absences accompanied by myoclonia limited to the facial area, perioral myoclonia with absences should be considered in terms of appropriate treatment and care for atypical absence status epilepticus.

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Juvenile myoclonic epilepsy: A system disorder of the brain

Cited by 97 publications

References 111 publications

Prevalence of juvenile myoclonic epilepsy in people <30 years of age—A population‐based study in Norway

Prevalence of juvenile myoclonic epilepsy in people <30 years of age—A population‐based study in Norway

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

The efficacy of lamotrigine for atypical absence status epilepticus in a case of perioral myoclonia with absence

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