2019
DOI: 10.1111/ane.13130
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Epileptic phenotypes in children with early‐onset mitochondrial diseases

Abstract: 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 fema… Show more

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Cited by 15 publications
(20 citation statements)
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“…Seizure and epilepsy in children with early-onset mitochondrial disease may be a presenting or a prominent symptom in a multisystemic clinical presentation. However, a higher prevalence of Leigh syndrome was detected in nonepileptic patients (23,24). 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.…”
Section: Discussioncontrasting
confidence: 58%
“…Seizure and epilepsy in children with early-onset mitochondrial disease may be a presenting or a prominent symptom in a multisystemic clinical presentation. However, a higher prevalence of Leigh syndrome was detected in nonepileptic patients (23,24). 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.…”
Section: Discussioncontrasting
confidence: 58%
“…It should be introduced as early as possible upon diagnosis, as early initiation may prevent further metabolic damage to the brain. 15,26 Succinic semialdehyde dehydrogenase deficiency. It is a rare monogenic disorder caused by a mutation in the ALDH5A1 gene.…”
Section: Molybdenum Cofactor Deficiency Type -A (Mocod)mentioning
confidence: 99%
“…Chilblain-like lesions or other more severe skin manifestations may be detected. Some cases may have prominent lupus-like features, but a full-blown picture of SLE is very unusual (147).…”
Section: Genetic Interferonopathiesmentioning
confidence: 99%
“…The localization and extent of calcifications can be variable. In this regard, AGS should be considered for the differential diagnosis of other causes of leukoencephalopathy (147). CSF analysis usually reveals chronic leukocytosis, predominantly lymphocytes, elevated neopterin, and elevated IFN-α activity, which declines over time.…”
Section: Genetic Interferonopathiesmentioning
confidence: 99%