Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment

Wesół-Kucharska, Dorota; Rokicki, Dariusz; Jezela‐Stanek, Aleksandra

doi:10.3390/children8070532

Cited by 24 publications

(30 citation statements)

References 71 publications

(152 reference statements)

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“…Pyruvate dehydrogenase complex deficiency can result from mutations of different nDNA genes ( PDHA , PDHB , LIAS , LIPT1 , DLD , and PDH ). In infancy, infantile spasms, clonic seizures, or refractory focal epilepsy can be observed, as well as developmental delay, ataxia, hypotonia, hypertonia, abnormal eye movements, dystonia, and axonal neuropathy; ketogenic diet may partially be effective in seizure control [ 65 , 66 ].…”

Section: Metabolic Disordersmentioning

confidence: 99%

“…Seizures can also often be generalized tonic, clonic or atonic. Cerebellar ataxia, cardiac arrhythmias, myopathy, diabetes, hearing loss, and dementia ensue [ 66 , 68 ].…”

Section: Metabolic Disordersmentioning

confidence: 99%

“…Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) ( MTTL1 gen: m.3243A >G m.3271T > C; MTND5 gen: m.13513G > A) are mostly characterized by seizures during a stroke-like episode, often with focal status epilepticus and secondary encephalopathy [ 66 , 69 ].…”

Section: Metabolic Disordersmentioning

confidence: 99%

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Inherited Developmental and Epileptic Encephalopathies

Bartolini¹

2021

Neurology International

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Epileptic encephalopathies often have a genetic etiology. The epileptic activity itself exerts a direct detrimental effect on neurodevelopment, which may add to the cognitive impairment induced by the underlying mutation (“developmental and epileptic encephalopathy”). The focus of this review is on inherited syndromes. The phenotypes of genetic disorders affecting ion channels, metabolic signalling, membrane trafficking and exocytosis, cell adhesion, cell growth and proliferation are discussed. Red flags suggesting family of genes or even specific genes are highlighted. The knowledge of the phenotypical spectrum can indeed prompt the clinician to suspect specific etiologies, expediting the diagnosis.

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Section: Metabolic Disordersmentioning

confidence: 99%

“…Seizures can also often be generalized tonic, clonic or atonic. Cerebellar ataxia, cardiac arrhythmias, myopathy, diabetes, hearing loss, and dementia ensue [ 66 , 68 ].…”

Section: Metabolic Disordersmentioning

confidence: 99%

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Inherited Developmental and Epileptic Encephalopathies

Bartolini¹

2021

Neurology International

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“…26 Energy deficit and reduced ATP production have been associated with mitochondrial dysfunction and epilepsy. 27 To our knowledge, this is the first study to report altered hair P in epileptic dogs.…”

Section: Acknowledgmentmentioning

confidence: 77%

Mineral, trace element, and toxic metal concentration in hair from dogs with idiopathic epilepsy compared to healthy controls

Rosendahl

Anturaniemi

Kukko‐Lukjanov

et al. 2023

Veterinary Internal Medicne

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Background Altered trace element status is associated with epilepsy in humans and dogs with idiopathic epilepsy (IE). Objectives Compare hair element concentrations in epileptic and healthy dogs. Animals Sixty‐three dogs with IE (53 treated, 10 untreated) and 42 controls. Methods Case‐control study using ICP‐MS to determine hair calcium, magnesium, phosphorus, sodium, potassium, iron, copper, manganese, zinc, selenium, chromium, lead, mercury, cadmium, arsenic, aluminum, and nickel concentration. Groups were compared using nonparametric tests. Results were controlled for diet, sex, age, and hair color using generalized linear mixed models. Results Compared to healthy controls, dogs with IE had lower hair phosphorus (mean ± SD; IE: 286.19 ± 69.62 μg/g, healthy: 324.52 ± 58.69 μg/g; P = .001), higher hair copper (IE: 10.97 ± 3.51 μg/g, healthy: 8.41 ± 1.27 μg/g; P < .001), zinc (IE: 158.25 ± 19.64 μg/g, healthy: 144.76 ± 32.18 μg/g; P < .001), copper/zinc ratio (IE: 0.07 ± 0.02, healthy: 0.06 ± 0.01; P = .003), selenium (IE: 1.65 ± 0.43 μg/g, healthy: 0.94 ± 0.73 μg/g; P < .001), and arsenic (IE: 0.40 ± 0.78 μg/g, healthy: 0.05 ± 0.08 μg/g; P < .001). When comparing treated and untreated epileptic dogs with healthy dogs, the differences in phosphorus and selenium remained significant for both groups, whereas the differences in copper, zinc, and arsenic were significant only for treated dogs. Potassium bromide treatment was strongly associated with high hair arsenic (P = .000). Conclusions and Clinical Importance Altered trace element status could be involved in the pathophysiology of IE in dogs. Antiseizure drugs might affect trace element and arsenic metabolism.

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“…The mechanism by which our patient's variant contributes to her DEE is unknown, but we hypothesize that she has a higher degree of heteroplasmy in brain tissue. Complex I deficiency and oxidative stress are among the most studied mechanisms linking mitochondrial dysfunction to epileptogenesis (Wesol-Kucharska et al, 2021). Interestingly, she did not have any of the classical biochemical hallmarks of mitochondrial disorders on blood, urine, or cerebrospinal fluid testing.…”

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confidence: 95%