Seizure outcome trajectories in a well‐defined cohort of newly diagnosed juvenile myoclonic epilepsy patients

Irelli, Emanuele Cerulli; Morano, Alessandra; Orlando, Biagio; Salamone, Enrico Michele; Fanella, Martina; Fattouch, Jinane; Manfredi, M.; Giallonardo, Anna Teresa; Bonaventura, Carlo Di

doi:10.1111/ane.13556

Cited by 12 publications

(8 citation statements)

References 44 publications

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“…EEM associated with sporadic body‐MYO has been classically considered as an intermediate phenotype between EEM and JME. In the present study, we provided an extensive electroclinical characterization of patients with body‐MYO, revealing striking electroclinical differences between them and previously reported JME cohorts 29–31 . First, febrile seizures appeared more frequent in our body‐MYO+ patients (as well as in the whole study population) compared with well‐defined cohorts of JME and other IGEs, reinforcing the hypothesis of a shared genetic background between EEM and generalized epilepsies with febrile seizures plus 32 .…”

Section: Discussionsupporting

confidence: 78%

“…32 Second, body-MYO+ patients showed strikingly higher rates of PS, ECS, borderline intellectual functioning, and ID compared with JME, as well as higher rates of EM status epilepticus and self-induced seizures. [29][30][31] Conversely, we did not observe remarkable familial, electroclinical, and prognostic differences between body-MYO+ and body-MYO− participants. Overall, our data suggest that body-MYO+ patients should be set apart from JME, as they suit well the complex continuum of EEM.…”

Section: Clinical Characteristics and Family History Of Epilepsy Acco...contrasting

confidence: 78%

“…In the present study, we provided an extensive electroclinical characterization of patients with body-MYO, revealing striking electroclinical differences between them and previously reported JME cohorts. [29][30][31] First, febrile seizures appeared more frequent in our body-MYO+ patients (as well as in the whole study population) compared with well-defined cohorts of JME and other IGEs, reinforcing the hypothesis of a shared genetic background between EEM and generalized epilepsies with febrile seizures plus. 32 Second, body-MYO+ patients showed strikingly higher rates of PS, ECS, borderline intellectual functioning, and ID compared with JME, as well as higher rates of EM status epilepticus and self-induced seizures.…”

Section: Clinical Characteristics and Family History Of Epilepsy Acco...supporting

confidence: 74%

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Spectrum of epilepsy with eyelid myoclonia: Delineation of disease subtypes from a large multicenter study

et al. 2022

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Background: Eyelid myoclonia with absences (EMA) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much work is still needed to better define this generalized epilepsy syndrome. Methods:In this multicenter retrospective cohort study, we included 267 EMA patients from 9 countries. The impact of age at epilepsy onset (AEO) on EMA clinical features was investigated, along with the distinctive clinical characteristics of patients showing sporadic myoclonia over body regions other than eyelids (body-MYO).Results: Kernel density estimation revealed a trimodal distribution of AEO and Fisher-Jenks optimization disclosed three EMA subgroups: early-onset (EO-EMA), intermediate-onset (IO-EMA) and late-onset subgroup (LO-EMA). EO-EMA was associated with the highest rate of intellectual disability, antiseizure medication refractoriness and psychiatric comorbidities and with the lowest rate of family history of epilepsy. LO-EMA was associated with the highest proportion of body-MYO and generalized tonic-clonic seizures (GTCS), whereas IO-EMA had the lowest observed rate of additional findings. A family history of EMA was significantly more frequent in IO-EMA and LO-EMA compared with EO-EMA. In the subset of patients with body-MYO (58/267), we observed a significantly higher rate of migraine and GTCS but no relevant differences in terms of other electroclinical features and seizure outcome. Conclusion:Based on AEO, we identified consistent EMA subtypes characterized by distinct electroclinical and familial features. Our observations highlight EMA as a model genetic generalized epilepsy syndrome, encompassing a spectrum of disease subtypes ranging from idiopathic generalized epilepsy to developmental/epileptic encephalopathy.

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Section: Discussionsupporting

confidence: 78%

Section: Clinical Characteristics and Family History Of Epilepsy Acco...contrasting

confidence: 78%

Section: Clinical Characteristics and Family History Of Epilepsy Acco...supporting

confidence: 74%

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Spectrum of epilepsy with eyelid myoclonia: Delineation of disease subtypes from a large multicenter study

et al. 2022

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“…A higher frequency of GTCS prior to ASM initiation was associated with a higher likelihood of drug resistance at the last visit at univariable analysis, as previously observed across different epilepsies 31–33 . In line with recent findings in JME, we were able to highlight the independent impact of catamenial seizures on seizure outcome in GTCA, possibly due to repeated progesterone withdrawal 34–37 . Previous studies suggested that perimenstrual seizure exacerbation may result from the premenstrual withdrawal of progesterone and its metabolite allopregnanolone, a potent positive allosteric modulator of the γ‐aminobutyric acid (GABA) type A receptor 37 .…”

Section: Discussionsupporting

confidence: 87%

Epilepsy with generalized tonic–clonic seizures alone: Electroclinical features and prognostic patterns

Cerulli Irelli,

Gesche,

Schlabitz

et al. 2023

Epilepsia

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ObjectiveEpilepsy with generalized tonic‐clonic seizures alone (GTCA) is a common but poorly characterized idiopathic generalized epilepsy (IGE) syndrome. Hence, we investigated electroclinical features, seizure outcome and antiseizure medication (ASM) withdrawal in a large cohort of GTCA patients.MethodsIn this multicenter retrospective study, GTCA patients defined according to the diagnostic criteria of the International League against Epilepsy (2022) were included. We investigated prognostic patterns, drug resistance at the last visit and ASM withdrawal, along with their prognostic factors.ResultsWe included 247 patients with a median (interquartile range [IQR]) age at onset of 17 years (13‐22) and a median follow‐up duration of 10 years (5‐20). Drug resistance at the last visit was observed in 40 (16.3%) patients, whereas the median latency to achieve 2‐year remission was 24 months (24‐46.5) with a median number of 1 (IQR 1‐2) ASM. During the long‐term follow‐up (i.e., 202 patients followed ≥ 5‐years after the first ASM trial), 69 (34.3%) patients displayed an early remission pattern, 36 (17.9%) patients a late remission, whereas 16 (8%) and 73 (36.3%) individuals had no‐remission and relapsing‐remitting patterns, respectively. Catamenial seizures and morning predominance of generalized tonic‐clonic seizures (GTCS) independently predicted drug resistance at the last visit according to multivariable logistic regression. Treatment withdrawal was attempted in 63 (25.5%) patients, with 59 (93.7%) of them having at least a 12‐month follow‐up after ASM discontinuation. At the last visit, 49 (83%) of those patients have experienced GTCS recurrence. A longer duration of seizure freedom was the only factor predicting a higher chance of successful ASM withdrawal according to multivariable Cox regression.SignificanceGTCA could be considered a relatively easily manageable IGE syndrome with a low rate of drug resistance and a high prevalence of early response to treatment. Nevertheless, a considerable proportion of patients experience relapsing patterns of seizure control, highlighting the need for appropriate counseling and lifestyle recommendations.

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“…A retrospective study of 66 patients reported that 59.1% of patients remained seizure-free for at least 5 years [ 15 ]. Another recent study involving 61 patients diagnosed with JME for more than 15 years reported that 65.5% of the patients experienced terminal remission lasting for 5 years [ 13 ], while 81.4% of the patients with newly diagnosed epilepsy achieved remission of all seizure types lasting for at least 2 years [ 24 ]. Despite being treated with appropriate and adequate ASMs, more than half (51%) of the patients in our study did not achieve seizure freedom.…”

Section: Discussionmentioning

confidence: 99%

Juvenile Myoclonic Epilepsy: Seizure and Social Outcomes in Taiwan

Lim

Tseng

et al. 2023

Healthcare

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Patients with juvenile myoclonic epilepsy (JME) may not achieve seizure freedom despite optimal treatment with antiseizure medications (ASMs). The aim of this study was to investigate the clinical and social features of patients with JME, and to determine the factors associated with outcomes. We retrospectively identified 49 patients with JME (25 females, mean age 27.6 ± 8.9 years) who were assessed at the Epilepsy Centre of Linkou Chang Gung Memorial Hospital in Taiwan. The patients were divided into two groups, those who were seizure-free and those with ongoing seizures according to their seizure outcome at the last follow-up for one year. Clinical features and social status were compared between these two groups. Twenty-four (49%) of the JME patients were seizure-free for at least one year, while 51% continued to experience seizures despite being treated with multiple ASMs. The presence of epileptiform discharges in the last electroencephalogram and seizures during sleep were significantly associated with worse seizure outcomes (p < 0.05). The patients who were seizure-free had a higher employment rate compared to those who continued to experience seizures (75% vs. 32%, p = 0.004). Despite receiving ASM treatment, a considerable proportion of the patients with JME continued to have seizures. Moreover, poor seizure control was associated with a lower employment rate, which may lead to negative socioeconomic consequences related to JME.

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Seizure outcome trajectories in a well‐defined cohort of newly diagnosed juvenile myoclonic epilepsy patients

Abstract: We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.

Cited by 12 publications

References 44 publications

Spectrum of epilepsy with eyelid myoclonia: Delineation of disease subtypes from a large multicenter study

Spectrum of epilepsy with eyelid myoclonia: Delineation of disease subtypes from a large multicenter study

Epilepsy with generalized tonic–clonic seizures alone: Electroclinical features and prognostic patterns

Juvenile Myoclonic Epilepsy: Seizure and Social Outcomes in Taiwan

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