Prognosis of Juvenile myoclonic epilepsy with eye-closure sensitivity

Uchida, Carina Gonçalves Pedroso; Carvalho, Kelly Cristina de; Guaranha, Mirian Salvadori Bittar; Guilhoto, Laura Maria de Figueiredo Ferreira; Filho, Gerardo Maria de Araújo; Yacubian, Elza Márcia Targas

doi:10.1016/j.seizure.2018.09.006

Cited by 14 publications

(18 citation statements)

References 46 publications

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“…The bilateral synchronous short polyspike-wave paroxysms associate with cyclic alternating pattern (CAP) A, especially in high homeostatic pressure periods similar to classic SW ( 53 ). The recently noticed photosensitivity ( 14 , 54 ) brings JME close to reflex-epilepsies. Frontal connectivity changes ( 55 ) and prominent behavioral issues ( 56 ) point to the extension of the epileptic network to the frontal lobe.…”

Section: Absence Epilepsy (Ae) Is the Epilepsy Of The Nrem Sleep-prommentioning

confidence: 99%

Sleep and Epilepsy Link by Plasticity

Halász

Szücs

2020

Front. Neurol.

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We aimed to explore the link between NREM sleep and epilepsy. Based on human and experimental data we propose that a sleep-related epileptic transformation of normal neurological networks underlies epileptogenesis. Major childhood epilepsies as medial temporal lobe epilepsy (MTLE), absence epilepsy (AE) and human perisylvian network (PN) epilepsies - made us good models to study. These conditions come from an epileptic transformation of the affected functional systems. This approach allows a system-based taxonomy instead of the outworn generalized-focal classification. MTLE links to the memory-system, where epileptic transformation results in a switch of normal sharp wave-ripples to epileptic spikes and pathological high frequency oscillations, compromising sleep-related memory consolidation. Absence epilepsy (AE) and juvenile myoclonic epilepsy (JME) belong to the corticothalamic system. The burst-firing mode of NREM sleep normally producing sleep-spindles turns to an epileptic working mode ejecting bilateral synchronous spike-waves. There seems to be a progressive transition from AE to JME. Shared absences and similar bilateral synchronous discharges show the belonging of the two conditions, while the continuous age windows - AE affecting schoolchildren, JME the adolescents - and the increased excitability in JME compared to AE supports the notion of progression. In perisylvian network epilepsies - idiopathic focal childhood epilepsies and electrical status epilepticus in sleep including Landau-Kleffner syndrome - centrotemporal spikes turn epileptic, with the potential to cause cognitive impairment. Postinjury epilepsies modeled by the isolated cortex model highlight the shared way of epileptogenesis suggesting the derailment of NREM sleep-related homeostatic plasticity as a common step. NREM sleep provides templates for plasticity derailing to epileptic variants under proper conditions. This sleep-origin explains epileptiform discharges' link and similarity with NREM sleep slow oscillations, spindles and ripples. Normal synaptic plasticity erroneously overgrowing homeostatic processes may derail toward an epileptic working-mode manifesting the involved system's features. The impact of NREM sleep is unclear in epileptogenesis occurring in adolescence and adulthood, when plasticity is lower. The epileptic process interferes with homeostatic synaptic plasticity and may cause cognitive impairment. Its type and degree depends on the affected network's function. We hypothesize a vicious circle between sleep end epilepsy. The epileptic derailment of normal plasticity interferes with sleep cognitive functions. Sleep and epilepsy interconnect by the pathology of plasticity.

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Section: Absence Epilepsy (Ae) Is the Epilepsy Of The Nrem Sleep-prommentioning

confidence: 99%

Sleep and Epilepsy Link by Plasticity

Halász

Szücs

2020

Front. Neurol.

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“…Several recent publications comparing JME patients and their siblings with healthy controls suggested that seizures are only one manifestation of a distinct endophenotype comprising additional subclinical symptoms and characteristics (Abarrategui et al, 2018;Baykan and Wolf, 2017;Wolf et al, 2015). This hypothesis is supported by neurophysiological studies (Chowdhury et al, 2015), functional MRI studies (Wandschneider et al, 2014), clinical observations (Uchida et al, 2018(Uchida et al, , 2015 and the varying response to anti-epileptic drugs with completely different modes of action. Also, paradoxical reactions to treatment with sodium channel blockers like lamotrigine may be part of the endophenotype (Crespel et al, 2005;Genton, 2000).…”

Section: Introductionmentioning

confidence: 84%

The clinical spectrum of familial and sporadic idiopathic generalized epilepsy

et al. 2020

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“…It can be accompanied by tonic-clonic seizures (TCS), absence, PPR, ECS, and EM. Myoclonus occurs after frequent awakening from sleep (35). The EEG is more likely to detect abnormalities in the morning, and sleep EEG always shows epileptic discharges (11).…”

Section: Discussionmentioning

confidence: 99%

“…A recent retrospective analysis of GGE patients also showed that valproic acid effectively reduced spike-slow waves induced by spontaneous and hyperventilation, but not in inhibiting spike-slow wave induced by IPS (9). It has also been mentioned that EM was an age-related electrical clinical manifestation that tends to disappear between 15 and 18 years old, even if the patient previously had only a partial response to different treatments (35). Studies have shown that photosensitivity, ECS, and family history can be used as prognostic indicators of eyelid myoclonus.…”

Section: Discussionmentioning

confidence: 99%

Case Report: A Case of Eyelid Myoclonic Status With Tonic–Clonic Seizure and Literature Review

et al. 2021

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Eyelid myoclonus with or without absence epilepsy is a rare and usually misdiagnosed disease in the neurology department. It is an idiopathic general epileptic syndrome, the onset period is 6–8 years, and is more common in girls. It is characterized by rapid abnormal eye blinking, accompanied by upward rolling of the eye and slight backward movement of the head, with eye closure sensitivity and photosensitivity. The seizure is frequent and short, dozens or even hundreds of times a day; a small number of patients may have eyelid myoclonus status. We report a patient who visits the hospital for the first time with eyelid myoclonic problem; the patient continued to wink the eyes, eye rolled up, and backward movement of the head, accompanied by impairment of consciousness. Video electroencephalography (VEEG) suggests continued spike slow-wave, polyspike slow-wave. After the patient had 2, 4, 6, 8, 10, 12, and 14 Hz of intermittent photic stimulation (IPS), her seizures and epileptic discharges reduced or stopped. Seven min after giving stimulation at 20 Hz, the child developed an occipital-initiated tonic–clonic seizure, which demonstrated that after sufficient IPS stimulation, the occiput cortex became excited and initiated a brain network, leading to diffuse brain discharge and tonic–clonic seizures. At 1 h after onset, the child developed a nonconvulsive state, with impairment of consciousness despite no eyelid myoclonic movements, and VEEG suggested a large number of epileptic discharges. After 10 min of administrating midazolam, the patient's EEG immediately became normal, and the patient regained consciousness. Therefore, this paper presents an eyelid myoclonus status patient with occipital origin seizure, we recorded the whole course of the disease and the treatment effect, and reviewed the literature accordingly.

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Prognosis of Juvenile myoclonic epilepsy with eye-closure sensitivity

Abstract: ECS is related to a worse outcome regarding control of all seizure types, persistence of EM, and higher frequency of limb myoclonia, as well as the total number of TCS and/or MTCS.

Cited by 14 publications

References 46 publications

Sleep and Epilepsy Link by Plasticity

Sleep and Epilepsy Link by Plasticity

The clinical spectrum of familial and sporadic idiopathic generalized epilepsy

Case Report: A Case of Eyelid Myoclonic Status With Tonic–Clonic Seizure and Literature Review

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