The 2017 ILAE classification of seizure types and the epilepsies: what do people with epilepsy and their caregivers need to know?

Brodie, Martin J.; Zuberi, Sameer M.; Scheffer, Ingrid E.; Fisher, Robert S.

doi:10.1684/epd.2018.0957

Cited by 61 publications

(59 citation statements)

References 6 publications

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“…With regard to the classification of the epilepsy in this patient, as per the 2017 International League Against Epilepsy (ILAE) classification of seizures (Brodie, Zuberi, Scheffer, & Fisher, ), the seizure onset at 3 months of age appears to be focal on the right side with motor symptoms, and additionally, on EEG there is evidence of focal to bilateral spreading. Classification of seizures at age 12 years is more difficult.…”

Section: Discussionmentioning

confidence: 99%

Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification

Kavanaugh

Warren

Baytaş

et al. 2019

American J of Med Genetics Pt A

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Aspartate-glutamate carrier 1 (AGC1) is one of two exchangers within the malateaspartate shuttle. AGC1 is encoded by the SLC25A12 gene. Three patients with pathogenic variants in SLC25A12 have been reported in the literature. These patients were clinically characterized by neurodevelopmental delay, epilepsy, hypotonia, cerebral atrophy, and hypomyelination; however, there has been discussion in the literature as to whether this hypomyelination is primary or secondary to a neuronal defect. Here we report a 12-year-old patient with variants in SLC25A12 and magnetic resonance imaging (MRI) at multiple ages. Novel compound heterozygous, recessive variants in SLC25A12 were identified: c.1295C>T (p.A432V) and c.1447-2_1447-1delAG. Clinical presentation is characterized by severe intellectual disability, nonambulatory, nonverbal status, hypotonia, epilepsy, spastic quadriplegia, and a happy disposition. The serial neuroimaging findings are notable for cerebral atrophy with white matter involvement, namely, early hypomyelination yet subsequent progression of myelination. The longitudinal MRI findings are most consistent with a leukodystrophy of the leuko-axonopathy category, that is, white matter abnormalities that are most suggestive of mechanisms that result from primary neuronal defects. We present here the first case of a patient with compound heterozygous variants in SLC25A12, including brain MRI findings, in the oldest individual reported to date with this neurogenetic condition.

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Section: Discussionmentioning

confidence: 99%

Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification

Kavanaugh

Warren

Baytaş

et al. 2019

American J of Med Genetics Pt A

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“…Outcomes such as “pain” were not deemed as important for an epilepsy COS across the stakeholder groups. This might be a reflection of the relevance of that outcome for this specific type of epilepsy . In the consensus meeting, the young people involved were vocal and fairly represented, and their views were often persuasive on other participants.…”

Section: Discussionmentioning

confidence: 99%

“…We did not have enough time during our face-to-face meeting to undertake a ranking task. The COMET handbook 25 identifies examples of where ranking has been used [32][33][34] as well as a recent study from the COMET database conducted in Sri Lanka that used a ranking method. 10 Our COS captured commonly reported items such as "seizure frequency" consistent with existing guidelines.…”

Section: Discussionmentioning

confidence: 99%

Core Health Outcomes in Childhood Epilepsy (CHOICE): Development of a core outcome set using systematic review methods and a Delphi survey consensus

et al. 2019

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Objective Establishing a core set of outcomes to be evaluated and reported in intervention trials aims to improve the usefulness of health research. There is no established core outcome set (COS) for childhood epilepsies. The aim of this study was to select a COS to be used in evaluative research of interventions for children with rolandic epilepsy (RE). Methods We followed guidance from the COMET (Core Outcome Measures in Effectiveness Trials) Initiative. First, we identified outcomes that had been measured in research through a systematic review. Second, young people with RE, parents, and professionals were invited to take part in a Delphi survey in which participants rated the importance of candidate outcomes. Last, a face‐to‐face meeting was convened to seek consensus on which outcomes were critical to include and to ratify the final COS. Results From 37 eligible papers in the review, we identified and included 48 candidate outcomes in the survey. We sent invitations to 165 people registered to take part in the survey; of these, 102 (62%) completed Round 1, and 80 (78%) completed Round 2 (three young people, 16 parents, 61 professionals). In Round 2 we included four additional outcomes suggested by participants in Round 1. The consensus meeting included two young people, four parents, and nine professionals who were eligible to vote and ratified the COS as 39 outcomes across 10 domains. Significance Our methodology was a proportionate and pragmatic approach toward producing a COS for evaluating research on interventions aiming to improve the health of children with RE.

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“…The diagnosis of seizures and epilepsy is usually based on the pattern of seizures, age of onset, and electroencephalographic and imaging features, and potentially the history of comorbidities as well as genetic and/or metabolic screening [25]. In our ALSPAC population study, we relied on data taken from questionnaires administered to the mothers at four time points: 18 months, 8 years, 11 years, and 13 years.…”

Section: Seizure Datamentioning

confidence: 99%

Epigenome-wide association study of seizures in childhood and adolescence

et al. 2020

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The occurrence of seizures in childhood is often associated with neurodevelopmental impairments and school underachievement. Common genetic variants associated with epilepsy have been identified and epigenetic mechanisms have also been suggested to play a role. In this study, we analyzed the association of genome-wide blood DNA methylation with the occurrence of seizures in~800 children from the Avon Longitudinal Study of Parents and Children, UK, at birth (cord blood), during childhood, and adolescence (peripheral blood). We also analyzed the association between the lifetime occurrence of any seizures before age 13 with blood DNA methylation levels. We sought replication of the findings in the Generation R Study and explored causality using Mendelian randomization, i.e., using genetic variants as proxies. The results showed five CpG sites which were associated cross-sectionally with seizures either in childhood or adolescence (1-5% absolute methylation difference at p FDR < 0.05), although the evidence of replication in an independent study was weak. One of these sites was located in the BDNF gene, which is highly expressed in the brain, and showed high correspondence with brain methylation levels. The Mendelian randomization analyses suggested that seizures might be causal for changes in methylation rather than vice-versa. In conclusion, we show a suggestive link between seizures and blood DNA methylation while at the same time exploring the limitations of conducting such study.

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The 2017 ILAE classification of seizure types and the epilepsies: what do people with epilepsy and their caregivers need to know?

Cited by 61 publications

References 6 publications

Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification

Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification

Core Health Outcomes in Childhood Epilepsy (CHOICE): Development of a core outcome set using systematic review methods and a Delphi survey consensus

Epigenome-wide association study of seizures in childhood and adolescence

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