Epileptic Seizures in Infants and Children With Mitochondrial Diseases

Lee, Hsiu-Fen; Chi, Ching‐Shiang; Tsai, Chi-Ren; Chen, Chin-Hsuan

doi:10.1016/j.pediatrneurol.2011.04.008

Cited by 23 publications

(33 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…3,5,6,10 The aims of this study were to describe a cohort of patients with early-onset MD, to compare the clinical and laboratory features between epileptic and non-epileptic patients and to characterize the epileptic phenotype. 3,5,6,10 The aims of this study were to describe a cohort of patients with early-onset MD, to compare the clinical and laboratory features between epileptic and non-epileptic patients and to characterize the epileptic phenotype.…”

Section: Discussionmentioning

confidence: 99%

Epileptic phenotypes in children with early‐onset mitochondrial diseases

et al. 2019

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%

Epileptic phenotypes in children with early‐onset mitochondrial diseases

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Among the wide spectrum of CNS manifestations, seizures constitute one of the most frequent, with mitochondrial dysfunction identified as both a cause of seizures and a trigger for neuronal cell death. 1 Although the true prevalence of epilepsy in patients with MDs is unknown, the reported seizure frequency in children with MDs ranges from 35 to 61%, [2][3][4] and epilepsy occurs more frequently in association with certain types of mitochondrial disease. 1 In addition to participating in cellular calcium homeostasis, generation of reactive oxygen species, and oxidative phosphorylation, mitochondria are a primary source of neuronal ATP, and mitochondrial dysfunction significantly affects neuronal excitability and synaptic transmission.…”

mentioning

confidence: 99%

“…1 Mitochondrial encephalopathy lactic acidosis and stroke-like syndrome (MELAS) is associated with either complex partial or generalized seizures, frequently presenting with status epilepticus. 6 Studies that systematically explore seizure semiology in pediatric patients with MD are scarce, 3,4,[7][8][9] and only a few case series were found correlating electroencephalography (EEG) findings with epileptic semiology in this population. 4,7,8 In a series of 48 children with epilepsy and confirmed MD, 2 (4%) had Otahara syndrome, 10 (21%) had West syndrome, 12 (25%) had Lennox-Gastaut, 2 (4%) had Landau-Kleffner syndrome, 14 (29%) had generalized epilepsy, and 8 (17%) presented with partial seizures.…”

mentioning

confidence: 99%

Seizure semiology and EEG findings in mitochondrial diseases

2014

View full text Add to dashboard Cite

SUMMARYObjective: Seizures constitute a frequent yet under-described manifestation of mitochondrial disorders (MDs). The aim of this study was to describe electroencephalography (EEG) findings and clinical seizure types in a population of children and adults with mitochondrial disease. Methods: Retrospective chart review of 165 records of children and adults with mitochondrial disease seen in the University of Texas Houston Mitochondrial Center between 2007 and 2012 was performed; all subjects were diagnosed with confirmed mitochondrial disease. EEG findings and clinical data, including seizure semiology and response to antiepileptic drugs (AEDs), were analyzed and categorized. Results: Sixty-six percent (109/165) of subjects had a routine EEG performed. Sixtyone percent (67/109) of EEG studies were abnormal and 85% (56/67) had epileptiform discharges. The most common EEG finding was generalized slowing (40/67, 60%). The most frequent category of epileptiform activity seen was multifocal discharges (41%), followed by focal (39%) and generalized (39%) discharges. Clinical seizures were seen in 55% of subjects and the most common types of seizures observed were complex partial (37%) and generalized tonic-clonic (GTC; 37%). The most common seizure type in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) was GTC (33%), with generalized or focal discharges seen on EEG. In Leigh syndrome GTC (11%) and complex partial (11%) seizures were the most frequent types. Of 60 subjects with clinical seizures, 28% were intractable to medical treatment. Significance: Mitochondrial disorder should be included in the list of differential diagnosis in any child that presents with encephalopathy, seizures, and a fluctuating clinical course. Given the relatively high prevalence of EEG abnormalities in patients with MD, EEG should be performed during initial evaluation in all patients with MD, not only upon clinical suspicion of epilepsy.

show abstract

“…50 Seizures are reported to occur in 35% -60% of infants, children and adolescents with biochemically or genetically confirmed disease. [50][51][52][53] The prevalence in adults is potentially lower with one study reporting a general prevalence of 23%;…”

Section: Epilepsymentioning

confidence: 99%

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Parikh

Goldstein

Karaa

et al. 2017

Genetics in Medicine

197

208

View full text Add to dashboard Cite

Purpose The purpose of this statement is to provide consensus-based recommendations for optimal management and care for patients with primary mitochondrial disease. This statement is intended for physicians who are engaged in the diagnosis and management of these patients.Methods Working Group members were appointed by the Mitochondrial Medicine Society. The panel included members with several different areas of expertise. The panel members utilized surveys and the Delphi method to reach consensus. We anticipate that this statement will need to be updated as the field continues to evolve.

show abstract

Epileptic Seizures in Infants and Children With Mitochondrial Diseases

Cited by 23 publications

References 23 publications

Epileptic phenotypes in children with early‐onset mitochondrial diseases

Epileptic phenotypes in children with early‐onset mitochondrial diseases

Seizure semiology and EEG findings in mitochondrial diseases

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Contact Info

Product

Resources

About