Journal article
Epilepsy and Respiratory Chain Defects in Children with Mitochondrial Encephalopathies
Neuropediatrics, v 39(1), pp 8-13
2008
PMID: 18504675
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Abstract
OBJECTIVE: The purpose of this study was to determine the relationship between epilepsy and respiratory chain defects in children with mitochondrial encephalopathies (ME).
STUDY DESIGN: We conducted a retrospective review of the medical records of children referred for evaluation of an ME. Only patients assigned a definite diagnosis of ME using modified Walker criteria and with a respiratory chain defect were included. Clinical data pertaining to the ME and epilepsy type were collected. Mitochondria were isolated by subcellular fractionation from a vastus lateralis muscle biopsy and studies were performed using polarographic and spectroscopic techniques for the quantitative determination of NADH and cytochrome components of the respiratory chain.
RESULTS: A total of 38 children with ME were identified. Seizures were present in 61%. Sixteen of 23 children with epilepsy (70%) had refractory epilepsy associated with a progressive encephalopathy. Children with epilepsy had a significantly higher incidence of complex I defects than children without epilepsy (p<0.01). Complex III and IV defects were significantly higher in patients without epilepsy (p<0.01 and p<0.05, respectively) than in those with epilepsy.
CONCLUSIONS: Epilepsy is an important component of ME. The higher incidence of complex I defects in patients with epilepsy suggests a possible relationship between mitochondrial oxidative stress dysfunction and epileptogenic process.
Metrics
Details
- Title
- Epilepsy and Respiratory Chain Defects in Children with Mitochondrial Encephalopathies
- Creators
- D. S. Khurana - Drexel UniversityL. Salganicoff - St. Christopher's Hospital for ChildrenJ. J. Melvin - St. Christopher's Hospital for ChildrenE. F. Hobdell - St. Christopher's Hospital for ChildrenI. Valencia - St. Christopher's Hospital for ChildrenH. H. Hardison - St. Christopher's Hospital for ChildrenH. G. Marks - St. Christopher's Hospital for ChildrenW. D. Grover - St. Christopher's Hospital for ChildrenA. Legido - St. Christopher's Hospital for Children
- Publication Details
- Neuropediatrics, v 39(1), pp 8-13
- Publisher
- Thieme
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics
- Web of Science ID
- WOS:000256838600002
- Scopus ID
- 2-s2.0-45149106917
- Other Identifier
- 991019168666704721
UN Sustainable Development Goals (SDGs)
This publication has contributed to the advancement of the following goals:
InCites Highlights
Data related to this publication, from InCites Benchmarking & Analytics tool:
- Web of Science research areas
- Clinical Neurology
- Pediatrics