Focal frontal epileptiform discharges in a patient with eyelid myoclonia and absence seizures

Takahashi, Satoru; Yamamoto, Shigeo; Tanaka, Ryosuke; Okayama, Akie; Araki, Akiko; Azuma, Hiroshi

doi:10.1016/j.ebcr.2015.06.006

Cited by 6 publications

(5 citation statements)

References 8 publications

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“…The ED originating from one of these areas spread to other brain regions through either the transcortical or thalamocortical pathways to project the generalized discharges. This also supports the idea of frontal lobe or occipital lobe‐ originated system epilepsies, which is compatible with the notion of a continuum, rather than a distinction between focal and generalized epilepsies (Wang et al ., 2014; Nar Senol et al ., 2015; Takahashi et al ., 2015).…”

Section: Discussionmentioning

confidence: 99%

“…These findings suggest that there is an overlap among the types of IGE, and that these epileptic syndromes are not static, but rather dynamic syndromes that evolve into one another over time with a possible continuum mediated by a common genetic abnormality. Thus, it seems more logical to consider JS as a system epilepsy with a high susceptibility to changes in the brain network (Wang et al, 2014;Nar Senol et al, 2015;Takahashi et al, 2015). Photosensitivity is accepted as the main feature of JS (Gülen Abanoz et al, 2018).…”

Section: Diagnostic Pitfalls Of Jeavons Syndromementioning

confidence: 99%

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Pitfalls in the diagnosis of Jeavons syndrome: a study of 32 cases and review of the literature

Reyhani¹,

Özkara²

2020

Epileptic Disorders

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Aims. Jeavons syndrome (JS) is mainly characterized by eyelid myoclonia with or without absences. It is thought to be underdiagnosed rather than have a rare prevalence. We aimed to investigate the electroclinical features of JS to determine possible factors influencing the diagnosis. Methods. We retrospectively identified the medical records of 32 cases (0.55%) from 5,796 patients with epilepsy. The inclusion criteria were: (1) eyelid myoclonia with or without absences; (2) generalized paroxysmal activity on EEG; and (3) discharges triggered by eyelid closure and/or intermittent photic stimulation. Results. Eighteen (56.2%) of the patients were female. The mean age at seizure onset was 8.7±5.3 years and the mean age at admission to hospital was 17.8±10.7 years. A family history of epilepsy was present in 15 (46.8%) patients. Eyelid myoclonias were noticed in six (18.7%) patients by themselves. Based on the analysis of video-EEG recordings, 26 (81.2%) patients were sensitive to eye closure, 22 (68.7%) had photoparoxysmal responses, and 16 (50%) presented with absence seizures. Ten (31.2%) patients had focal epileptic discharges. Eight (25%) patients were on monotherapy. Seven (21.8%) patients achieved seizure freedom. Three patients underwent ketogenic diet therapy, which was effective in two patients. A vagus nerve stimulator was implanted into three patients, one of whom reported seizure reduction. Conclusions. Eyelid myoclonias are the main seizure type of JS but are usually overlooked. The time interval between seizure onset and clinical diagnosis suggests that this syndrome continues to be under-recognized. The genetic heterogeneity and phenotypic variability are likely to be more extensive than currently recognized, making the diagnosis more phalangine. [Published with video sequence].

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Section: Discussionmentioning

confidence: 99%

Section: Diagnostic Pitfalls Of Jeavons Syndromementioning

confidence: 99%

Pitfalls in the diagnosis of Jeavons syndrome: a study of 32 cases and review of the literature

Reyhani¹,

Özkara²

2020

Epileptic Disorders

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“…The base model used to generate SpW in the present work generated frequencies of events similar to those seen clinically for atypical absences and some manifestations of focal epilepsies ( Blumenfeld 2005 ; Takahashi et al 2015 ). Building on this baseline of stereotyped, single spike per SpW discharges, we have shown that different pathologies linked to genetic risk factors (enhanced NMDA conductance, reduced GABA A receptor-mediated synaptic inhibition) generated multiple spikes per SpW with different spatiotemporal dynamic properties.…”

Section: Discussionmentioning

confidence: 99%

“…It is thought they form part of a continuum of pathologies ranging from benign partial epilepsies through to continuous SpW associated with sleep ( Medeiros et al 2010 ). SpW are also seen in focal epilepsies, particularly (though not exclusively) in extratemporal areas such as frontal, parietal, and occipital cortices ( Takahashi et al 2015 ; Taylor et al 2003 ; Westmoreland 1998 ).…”

Section: Introductionmentioning

confidence: 99%

Enhanced interlaminar excitation or reduced superficial layer inhibition in neocortex generates different spike-and-wave-like electrographic events in vitro

Hall

Traub

Adams

et al. 2018

Journal of Neurophysiology

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Acute in vitro models have revealed a great deal of information about mechanisms underlying many types of epileptiform activity. However, few examples exist that shed light on spike-and-wave (SpW) patterns of pathological activity. SpW are seen in many epilepsy syndromes, both generalized and focal, and manifest across the entire age spectrum. They are heterogeneous in terms of their severity, symptom burden, and apparent anatomical origin (thalamic, neocortical, or both), but any relationship between this heterogeneity and underlying pathology remains elusive. In this study we demonstrate that physiological delta-frequency rhythms act as an effective substrate to permit modeling of SpW of cortical origin and may help to address this issue. For a starting point of delta activity, multiple subtypes of SpW could be modeled computationally and experimentally by either enhancing the magnitude of excitatory synaptic events ascending from neocortical layer 5 to layers 2/3 or selectively modifying superficial layer GABAergic inhibition. The former generated SpW containing multiple field spikes with long interspike intervals, whereas the latter generated SpW with short-interval multiple field spikes. Both types had different laminar origins and each disrupted interlaminar cortical dynamics in a different manner. A small number of examples of human recordings from patients with different diagnoses revealed SpW subtypes with the same temporal signatures, suggesting that detailed quantification of the pattern of spikes in SpW discharges may be a useful indicator of disparate underlying epileptogenic pathologies.NEW & NOTEWORTHY Spike-and-wave-type discharges (SpW) are a common feature in many epilepsies. Their electrographic manifestation is highly varied, as are available genetic clues to associated underlying pathology. Using computational and in vitro models, we demonstrate that distinct subtypes of SpW are generated by lamina-selective disinhibition or enhanced interlaminar excitation. These subtypes could be detected in at least some noninvasive patient recordings, suggesting more detailed analysis of SpW may be useful in determining clinical pathology.

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“…Uważa się, że punkt spustowy napadu znajduje się w korze czołowej lub potylicznej. Impuls wywodzący się z jednego z tych płatów rozprzestrzenia się do innych obszarów mózgu poprzez szlaki transkorowe lub wzgórzowo-korowe, przekształcając się z napadu częściowego w napad uogólniony [16,30,31].…”

Section: Patofizjologia/patomechanizmunclassified

Zespół Jeavonsa - od patofizjologii do leczenia

Niwińska¹

2021

Child Neurology

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Zespół Jeavonsa (ZJ) to rzadki, genetycznie uwarunkowany zespół padaczkowy charakteryzujący się miokloniami powiek z upośledzeniem świadomości lub z jej zachowaniem. Napady mogą wystąpić pod wpływem fotostymulacji lub zostać wyindukowane przez pacjenta poprzez zamknięcie powiek. Mioklonie powiek stanowią główny typ napadów, ale zwykle są błędnie interpretowane lub przeoczane, dopóki nie rozwiną się inne typy napadów lub nie zostanie wykonane wideo-EEG. Najskuteczniejszymi lekami wydają się być kwas walproinowy i lewetyracetam, często jednak dochodzi do rozwoju padaczki lekoopornej. Duża różnica między wiekiem wystąpienia pierwszych objawów a postawieniem prawidłowego rozpoznania potwierdza fakt, iż choroba ta stwarza istotne problemy diagnostyczne.

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Focal frontal epileptiform discharges in a patient with eyelid myoclonia and absence seizures

Cited by 6 publications

References 8 publications

Pitfalls in the diagnosis of Jeavons syndrome: a study of 32 cases and review of the literature

Pitfalls in the diagnosis of Jeavons syndrome: a study of 32 cases and review of the literature

Enhanced interlaminar excitation or reduced superficial layer inhibition in neocortex generates different spike-and-wave-like electrographic events in vitro

Zespół Jeavonsa - od patofizjologii do leczenia

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