The mitochondrial epilepsies

Lim, Albert; Thomas, Rhys H.

doi:10.1016/j.ejpn.2019.12.021

Cited by 56 publications

(41 citation statements)

References 88 publications

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“…In keeping with other metabolic disorders, seizures include both spontaneous epileptic seizures and provoked seizures. The epileptic seizures in mitochondrial disorders differ from seizures in other contexts with respect (1) more frequently of posterior quadrant and occipital lobe onset; (2) more likely to present with non-convulsive status epilepticus which may last months; (3) multidrug resistant from the onset; (4) may have only a minimal EEG (13). At present MELAS cannot be cured.…”

Section: Discussionmentioning

confidence: 98%

Epilepsy Associated With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

Zhang

Cui

et al. 2021

Front. Neurol.

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Objectives: The present study explored the clinical characteristics and prognostic factors of epilepsy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).Methods: Thirty-four MELAS patients were included in the present study. They were diagnosed by clinical characteristics, genetic testing, muscle biopsy, and retrospective analysis of other clinical data. The patients were divided into three groups according to the effects of treatment after at least 2 years of follow-up.Results: Epilepsy was more common in male MELAS patients than in females (20/14). The age of onset ranged from 0.5 to 57 years, with an average of 22.6 years. Patients with epilepsy and MELAS had various forms of seizures. Focal seizures were the most common type affecting 58.82% of patients, and some patients had multiple types of seizures. The abnormal EEG waves were mainly concentrated in the occipital (69.57%), frontal (65.22%) and temporal lobes (47.83%). Overall, the prognosis of patients with epilepsy and MELAS was poor. Poor prognosis was associated with brain atrophy (P = 0.026), status epilepticus (P < 0.001), and use of anti-seizure medications with high mitochondrial toxicity (P = 0.015).Interpretation: Avoiding the application of anti-seizure medications with high mitochondrial toxicity, controlling seizures more actively and effectively, and delaying the occurrence and progression of brain atrophy as much as possible are particularly important to improve the prognosis of patients with MELAS and epilepsy.

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Section: Discussionmentioning

confidence: 98%

Epilepsy Associated With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

Zhang

Cui

et al. 2021

Front. Neurol.

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“…Subsequent to the episode of status, there appear to be a downhill course with refractory seizures and death a few years later from recurrent infections (Walker et al, 2016;Chen and Zhang, 2019). This clinical presentation is reminiscent of that of Alpers-Huttenlocher disease (AHD), which has a bimodal age at seizure onset, the most common being between the ages of 2-4 years and the second during adolescence and early adulthood (Lim and Thomas, 2020). The most common presentation of POLG related disorders consist of focal motor seizures with frequent progression to epilepsia partialis continua.…”

Section: Discussionmentioning

confidence: 99%

“…The most common presentation of POLG related disorders consist of focal motor seizures with frequent progression to epilepsia partialis continua. Other seizure types include focal seizures of occipital origin as well as myoclonic seizures ( Lim and Thomas, 2020 ). A characteristic EEG pattern known as rhythmic high-amplitude delta with superimposed (poly) spikes is suggestive of this diagnosis ( van Westrhenen et al, 2018 ).…”

Section: Discussionmentioning

confidence: 99%

FARS2 Mutations: More Than Two Phenotypes? A Case Report

et al. 2020

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FARS2, a nuclear gene, encodes the mitochondrial phenylalanyl-tRNA synthetase (mtPheRS). Previous reports have described two distinct phenotypes linked to FARS2 gene mutation: an early onset epileptic encephalopathy and spastic paraplegia. This report describes a distinctive phenotype of FARS2-linked, juvenile onset refractory epilepsy, caused by a hemizygous mutation in a compound heterozygous state (p.V197M and exon 2 microdeletion). A 17-year-old woman with normal development presented with a super refractory focal motor status epilepticus. Only an emergency life-saving surgery aborted her status after all therapeutic interventions, including anesthesia, failed to control her seizures. Pathological and biochemical activities on muscle biopsy showed mitochondrial proliferation with enhanced isolated activities of complexes II and IV, suggestive of a compensatory mechanism for the bioenergetic deficiency. Postoperatively, the patient started experiencing focal aware motor seizures originating from the contralateral hemisphere after being seizure free for a few months. This report suggests a third phenotypic manifestation of FARS2 gene mutation.

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“…Subsequent to the episode of status, there appear to be a downhill course with refractory seizures and death a few years later from recurrent infections (Chen & Zhang, 2019;Walker et al, 2016). This clinical presentation is reminiscent of that of Alpers-Huttenlocher disease (AHD), which has a bimodal age at seizure onset, the most common being between the ages of 2-4 years and the second during adolescence and early adulthood (Lim & Thomas, 2020). The most common presentation of POLG related disorders consist of focal motor seizures with frequent progression to epilepsia partialis continua.…”

Section: Case Reportmentioning

confidence: 99%

“…The most common presentation of POLG related disorders consist of focal motor seizures with frequent progression to epilepsia partialis continua. Other seizure types include focal seizures of occipital origin as well as myoclonic seizures (Lim & Thomas, 2020). A characteristic EEG pattern known as rhythmic high-amplitude delta with superimposed (poly)spikes is suggestive of this diagnosis.…”

Section: Case Reportmentioning

confidence: 99%

FARS2 Mutations: More Than Two Phenotypes

Hotait¹,

Nasreddine²,

El-Khoury³

et al.

Authorea

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FARS2, a nuclear gene, encodes the mitochondrial phenylalanyl-tRNA synthetase (mtPheRS). Previous reports have described two distinct phenotypes linked to FARS2 gene mutation: an early onset epileptic encephalopathy and spastic paraplegia. This report describes a distinctive phenotype of FARS2-linked, juvenile onset refractory epilepsy, caused by a hemizygous mutation (p.V197M and exon 2 microdeletion). A 17-year-old woman with normal development presented with a super refractory focal motor status epilepticus. Only an emergency life-saving surgery aborted her status after all therapeutic interventions, including anesthesia, failed to control her seizures. Pathological and biochemical activities on muscle biopsy showed mitochondrial proliferation with enhanced isolated activities of complexes II and IV, suggestive of a compensatory mechanism for the bioenergetic deficiency. Postoperatively, the patient started experiencing focal aware motor seizures originating from the contralateral hemisphere after being seizure free for a few months. This report confirms a third phenotypic manifestation of FARS2 gene mutation.

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The mitochondrial epilepsies

Cited by 56 publications

References 88 publications

Epilepsy Associated With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

Epilepsy Associated With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

FARS2 Mutations: More Than Two Phenotypes? A Case Report

FARS2 Mutations: More Than Two Phenotypes

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