Mitochondrial diseases and status epilepticus

Rahman, Shamima

doi:10.1111/epi.14485

Cited by 33 publications

(45 citation statements)

References 69 publications

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“…Mechanisms triggering SE may be related to the oxidative stress, the impaired calcium homeostasis, and defects of specific factors, depending on the type of MD. 33,34 In our series, SE and EPC occurred more often in patients carrying PDHc or complex I deficiencies, thus confirming that these biochemical defects could be highly epileptogenic.…”

Section: Discussionsupporting

confidence: 78%

“…and psychomotor improvement. Mechanisms triggering SE may be related to the oxidative stress, the impaired calcium homeostasis, and defects of specific factors, depending on the type of MD 33,34. The right side arm EPC was intermingled with asymmetric tonic seizure mainly involving left side arm and related to generalized low-voltage fast rhythms with right parieto-occipital prevalence, when the tonic seizure ended the EPC recurred.…”

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confidence: 99%

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Epileptic phenotypes in children with early‐onset mitochondrial diseases

et al. 2019

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Objectives:To determine the prevalence of epilepsy in children with early-onset mitochondrial diseases (MDs) and to evaluate the epileptic phenotypes and associated features. Materials and Methods:Children affected by MD with onset during the first year of life were enrolled. Patients were classified according to their mitochondrial phenotype, and all findings in patients with epilepsy versus patients without were compared. The epileptic features were analyzed. Results:The series includes 129 patients (70 females) with median age at disease onset of 3 months. The median time of follow-up was 5 years. Non-syndromic mitochondrial encephalopathy and pyruvate dehydrogenase complex deficiency were the main mitochondrial diseases associated with epilepsy (P < 0.05). Seizures occurred in 48%, and the presence of epilepsy was significantly associated with earlier age at disease onset, presence of perinatal manifestations, and early detection of developmental delay and regression (P < 0.001). Epileptic encephalopathy (EE) with spasms and EE with prominent focal seizures were the most detected epileptic syndromes (37% and 27.4%). Several seizure types were recorded in 53.2%, with the unusual association of generalized and focal epileptic pattern. Disabling epilepsy was detected in 63% and was associated with early seizure onset, presence of several seizure types, epileptic syndrome featuring EE, and the recurrence of episodes of status epilepticus and epilepsia partialis continua (P < 0.05).Conclusions: Epilepsy in children with early-onset MD may be a presenting or a prominent symptom in a multisystemic clinical presentation. Epilepsy-related factors could determine a worst seizure outcome, leading to a more severe burned of the disease. K E Y W O R D Schildren, early onset, epileptic encephalopathy, epileptic spasms, mitochondrial diseases, mitochondrial epilepsy | 185 MATRICARDI eT Al.

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Section: Discussionsupporting

confidence: 78%

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confidence: 99%

Epileptic phenotypes in children with early‐onset mitochondrial diseases

et al. 2019

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“…Though seizures took the place of the second most common presenting symptom at disease onset in our study, there was no case of severe condition as status epilepticus. The most frequent causes of mitochondrial status epilepticus are known as mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) and myoclonus epilepsy with ragged-red fibers (MERRF) (25). LS is typically characterized by the involvement of the brainstem and/or basal ganglia (4,26).…”

Section: Discussionmentioning

confidence: 99%

Clinical Characteristics of Early-Onset and Late-Onset Leigh Syndrome

Hong

Park

et al. 2020

Front. Neurol.

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Background: Leigh syndrome (LS) is the most common pediatric mitochondrial diseases caused by MRC defect. LS patients typically have onset age before 2 years old and have various clinical features. The purpose of this study was to evaluate the various characteristics between the group that were early onset and late onset patients. Methods: The medical records of this study used records between 2006 and 2017 (N = 110). Clinical characteristics, diagnostic evaluations, and neuro image studying of LS were reviewed in our study. We statistically analyzed data from patients diagnosed with LS at our hospital by using subgroup analysis was performed to divide patients according to the onset age. Results: Among the patients, 89 patients (80.9%) had the onset age before 2 years old, and 21 patents (19.1%) had onset age after 2 years old. In subgroup analysis first clinical presentation age, diagnosis age and several onset symptoms in the clinical characteristics were statistically significant. Early onset age group showed delayed development and late onset age group showed motor weakness and ataxia. However, Diagnostics evaluation and MRI findings showed no significant differences. The clinical status monitored during the last visit showed statistically significant differences in the clinical severity. In the early onset age group clinical status was more severe than late onset age group. Conclusions: Although the onset of Leigh syndrome is known to be under 2 years, there are many late onset cases were existed more than expected. Early onset LS patients have poor prognosis compare with late onset LS patients. Therefore, the specific phenotype according to the age of onset should be well-observed. Onset of LS is important in predicting clinical severity or prognosis, and it is necessary to provide individualized treatment or follow-up protocols for each patient.

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“…Epilepsy is also a prominent feature of the canonical syndromes MELAS and MERRF and may be seen in many cases of Leigh syndrome and in mitochondrial leukoencephalopathies. Epilepsy is estimated to have a prevalence of ~40‐60% in paediatric mitochondrial disease and has been reported in association with defects in >140 mitochondrial disease genes, frequently as an adverse prognostic factor [60]. Causes of mitochondrial leukoencephalopathy include deficiencies of complex I and II assembly, defects of iron–sulphur cluster and lipoic acid biosynthesis and MNGIE.…”

Section: Other Phenotypes: a Systems Approach To Mitochondrial Diseasmentioning

confidence: 99%