Idiopathic generalized epilepsy

Opeskin, Kenneth; Kalnins, Renate M; Halliday, GM; Cartwright, Heidi; Berkovic, Samuel F.

doi:10.1212/wnl.55.8.1101

Cited by 48 publications

(33 citation statements)

References 12 publications

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“…1,2 Although there is some evidence for maturation disturbance of cortical neurons in patients with IGE, 3,4 these findings remain controversial 5 and could not be reproduced by another neurohistological study. 6 Magnetic resonance spectroscopy (MRS) studies have revealed that patients with JME have reduced concentration of NAA in prefrontal regions. 7,8 Furthermore, the NAA/creatine ratio 9,10 and concentration of cholines and myo-inositol 8 were found to be reduced in the thalamus of patients with JME relative to healthy controls.…”

mentioning

confidence: 99%

Nerve fiber impairment of anterior thalamocortical circuitry in juvenile myoclonic epilepsy

Deppe¹,

Kellinghaus²,

Duning³

et al. 2008

Neurology

119

112

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confidence: 99%

Nerve fiber impairment of anterior thalamocortical circuitry in juvenile myoclonic epilepsy

Deppe¹,

Kellinghaus²,

Duning³

et al. 2008

Neurology

119

112

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“…Uma hipótese muito discutida é o conceito de "microdisgenesia" cortical descrito por Meencke e col. 24 . Porém, este conceito é controvertido 25 .…”

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Epilepsias generalizadas idiopáticas diagnosticadas incorretamente como epilepsias parciais

Mory

Guerreiro

et al. 2002

Arq. Neuro-Psiquiatr.

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RESUMO -A epilepsia generalizada idiopática (EGI) frequentemente não é diagnosticada corretamente em adultos, com sérias consequências para os pacientes. O objetivo deste estudo foi avaliar os fatores mais frequentemente associados a dificuldades no diagnóstico diferencial entre epilepsias parciais e generalizadas em adultos. Avaliamos 41 pacientes com diagnostico de crises parciais complexas com elementos de anamnese e EEG indicando um possível diagnóstico diferencial. Foi possível a mudança do diagnóstico de epilepsia parcial para EGI em 25 pacientes: 22 (88%) com EMJ; um com ausência juvenil, um com síndrome de ausências com mioclonias periorais e um com ausência com mioclonias palpebrais. Mioclonias, uma das características da EMJ e outras formas de EGI, geralmente não eram espontaneamente relatadas pelos pacientes. Abalos mioclônicos unilaterais eram confundidos com crises parciais motoras. Ausências breves e pouco frequentes e anormalidades focais no EEG contribuíram para o não reconhecimento de EGI. Todos os 25 pacientes apresentavam crises sem controle adequado antes da revisão diagnóstica. Após o diagnóstico correto e mudança para monoterapia com acido valpróico ou valproato de sódio, 19 (76%) ficaram livre de crises e seis (24%) dos 25 pacientes apresentaram melhora significativa. A associação de lamotrigina em três destes pacientes propiciou redução significativa da frequência de crises. Em conclusão, anamnese detalhada e questionamento direcionado para determinar a presença de mioclonias e crises tipo ausência e a sua interpretação no contexto clínico são fundamentais para o diagnóstico correto das EGI em adultos. PALAVRAS-CHAVE: epilepsia, diagnostico, tratamento, EEG. Idiopathic generalized epilepsies misdiagnosed as partial epilepsiesABSTRACT -Idiopathic generalized epilepsy (IGE) is often not recognized with serious consequences on the sufferers. We examined factors contributing to the missed diagnosis of IGE in 41 adults attending our epilepsy clinic with diagnosis of partial epilepsy who had semiology or EEG findings suggesting a possible differential diagnosis. After careful re-evaluation, the diagnosis of IGE was established in 25 patients: 22 (88%) with JME, one with juvenile absence, one with perioral myoclonia with absences, one with eyelid myoclonia with typical absences. Myoclonic jerks, the hallmark of the JME and other IGE, were not usually reported by patients or misdiagnosed as focal motor seizures. Brief and infrequent absence seizures and focal EEG abnormalities were other factors contributing to not recognizing JME. All 25 patients did not achieve seizure control before re-evaluation of diagnosis. After appropriate diagnosis of IGE and change of AED to valproate or valproic acid, 19 (76%) became seizure free and six (24%) had a significant improvement on seizure control. Association with lamotrigine provided further improvement in three of these patients. An appropriate questioning to identify myoclonic and absence seizures and a proper interpretation in the context of whole clini...

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“…It is generally believed that the increased cortical GMV or GMC are markers for a developmental abnormality in people with GGE, caused by an increase of cortical or subcortical neurons. Human VBM studies often reference pathological studies in people with GGE (Meencke and Janz, 1985), particularly JME, suggesting abnormalities of cortical maturation abnormalities or “microdysplasias”, although these findings have been disputed (Lyon and Gastaut, 1985; Opeskin et al, 2000). The pathological findings included increased neurons in the stratum moleculare, subcortical white matter, but also increased neuronal density within the cortices, providing a plausible explanation for the increased GMV or GMC in people with JME.…”

Section: Methodsmentioning

confidence: 99%

“…There is still substantial disagreement on whether there are cortical developmental changes in autopsied people with generalized genetic epilepsies (GGE), some of whom were diagnosed with JME (Meencke and Janz, 1985; Lyon and Gastaut, 1985; Opeskin et al, 2000). A recent MRI study evaluating the direction and magnitude of metric distortion of cortices in JME patients relative to controls demonstrated that surface area and mean curvature – both being measures of cortical folding and markers for developmental anomalies - were more important markers for morphometric differences than cortical thickness (Ronan et al, 2012).…”

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confidence: 99%

Voxel-based morphometry in epileptic baboons: Parallels to human juvenile myoclonic epilepsy

Szabó

Salinas

2016

Epilepsy Research

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The epileptic baboon represents a natural model for genetic generalized epilepsy (GGE), closely resembling juvenile myoclonic epilepsy (JME). Due to functional neuroimaging and pathological differences between epileptic (SZ+) and asymptomatic control (CTL) baboons, we expected structural differences in gray matter concentration (GMC) using voxel-based morphometry (VBM). Standard anatomical (MP-RAGE) MRI scans using a 3T Siemens TIM Trio (Siemens, Erlangen, Germany) were available in 107 baboons (67 females; mean age 16 ± 6 years) with documented clinical histories and scalp-electroencephalography (EEG) results. For neuroimaging, baboons were anesthetized with isoflurane 1% (1-1.5 MAC) and paralyzed with vecuronium (0.1-0.3 mg/kg). Data processing and analysis were performed using FSL’s VBM toolbox. GMC was compared between CTL and SZ+ baboons, epileptic baboons with interictal epileptic discharges on scalp EEG (SZ+/IED+), asymptomatic baboons with abnormal EEGs (SZ−/IED+), and IED+ baboons with (IED+/PS+) and without (IED+/PS−) photosensitivity, and the subgroups amongst themselves. Age and gender related changes in gray matter volumes were also included as confound regressors in the VBM analyses of each animal group. Significant increases in GMC were noted in the SZ+/IED+ subgroup compared to the CTL group, including bilaterally in the frontopolar, orbitofrontal and anterolateral temporal cortices, while decreases in GMC were noted in the right more than left primary visual cortices and in the specific nuclei of the thalamus, including reticular, anterior and medial dorsal nuclei. No significant differences were noted otherwise, except that SZ+/IED+ baboons demonstrated increased GMC in the globus pallidae bilaterally compared to the SZ−/IED+ group. Similar to human studies of JME, the epileptic baboons demonstrated GMC decreases in the thalami and occipital cortices, suggesting secondary injury due to chronic epilepsy. Cortical GMC, on the other hand, was increased in the anterior frontal and temporal lobes, also consistent with human JME studies. This VBM study may indicate a combination of developmental and acquired structural changes in the epileptic baboon.

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Idiopathic generalized epilepsy

Cited by 48 publications

References 12 publications

Nerve fiber impairment of anterior thalamocortical circuitry in juvenile myoclonic epilepsy

Nerve fiber impairment of anterior thalamocortical circuitry in juvenile myoclonic epilepsy

Epilepsias generalizadas idiopáticas diagnosticadas incorretamente como epilepsias parciais

Voxel-based morphometry in epileptic baboons: Parallels to human juvenile myoclonic epilepsy

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