Epilepsy in mitochondrial disorders

Finsterer, Josef; Zarrouk‐Mahjoub, Sinda

doi:10.1016/j.seizure.2012.03.003

Cited by 73 publications

(66 citation statements)

References 59 publications

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“…The clinical phenotypes of POLG-related disorders include autosomal recessive and dominant adult-onset PEO [70][71][72][73], myoclonic epilepsy, myopathy, sensory ataxia (MEMSA) syndrome [74,75], ataxia-neuropathy spectrum including mitochondrial recessive ataxia syndrome (MIRAS), and sensory ataxia, neuropathy, dysarthria, ophthalmoplegia (SANDO) syndrome [76][77][78][79], and hepatocerebral MDS (Alpers-Huttenlocher syndrome) [80][81][82][83][84][85][86][87][88][89][90]. More recently, POLG mutations were identified in individuals with clinical features of MNGIE, but no leukoencephalopathy [91].…”

Section: Polg-related Hepatocerebral Mdsmentioning

confidence: 99%

Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options

2013

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Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy production in affected tissues and organs. MDS are due to defects in mtDNA maintenance caused by mutations in nuclear genes that function in either mitochondrial nucleotide synthesis (TK2, SUCLA2,

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Section: Polg-related Hepatocerebral Mdsmentioning

confidence: 99%

Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options

2013

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“…The prevalence of seizures (41%) has been observed to be significantly higher in individuals with ASD and MD than in the general ASD population (11%) (74), raising the possibility that epileptic episodes observed in ASD might have a mitochondrial origin. Indeed, epilepsy is a recurrent feature of many inherited “classic” mitochondrial disorders, like myoclonic epilepsy with ragged red fibers, mitochondrial encephalopathy with lactic acidosis, and stroke-like episodes (77), and Leigh syndrome (78). In a small study on children with ETC defects (Table 1), the KGD has been proven to reduce epileptic attacks, with far better prognosis among children with Complex I deficits than Complex IV (27).…”

Section: Therapeutic Use Of Kgd In Asdmentioning

confidence: 99%

Potential Therapeutic Use of the Ketogenic Diet in Autism Spectrum Disorders

2014

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The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy. More recently, its use has been advocated in a number of neurological disorders prompting a newfound interest in its possible therapeutic use in autism spectrum disorders (ASD). One study and one case report indicated that children with ASD treated with a KGD showed decreased seizure frequencies and exhibited behavioral improvements (i.e., improved learning abilities and social skills). The KGD could benefit individuals with ASD affected with epileptic episodes as well as those with either PDH or mild respiratory chain (RC) complex deficiencies. Given that the mechanism of action of the KGD is not fully understood, caution should be exercised in ASD cases lacking a careful biochemical and metabolic characterization to avoid deleterious side effects or refractory outcomes.

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“…An increasing number of patients with non-syndromic MIDs is recognized which also present with epilepsy as the dominant or as a collateral feature of the phenotype [6][7][8]. MIDs in these patients may be due to abnormal proteins of the respiratory chain or oxidative phosphorylation, disordered assembly of oxidative phosphorylation complexes, disordered mitochondrial translation, disorders of mt DNA maintenance, coenzyme-Q deficiency, or disordered mitochondrial import of proteins [2].…”

Section: Discussionmentioning

confidence: 99%

“…Epilepsy in MIDs may be genetic without structural changes in the brain or due to structural/metabolic CNS changes secondary to the underlying mtDNA or nDNA mutation. Structural/metabolic causes of mitochondrial epilepsy include atherothrombotic or embolic ischemic stroke, stroke-like lesions, focal atrophy, white matter lesions, grey matter lesions, or cerebro-spinal fluid (CSF)-lactacidosis [2]. Little is known about type and prevalence of seizures and about treatment and outcome of epilepsy in MIDs.…”

Section: Introductionmentioning

confidence: 99%