caa a22 4500 463181204 CHVBK 20180406164839.0 cr unu---uuuuu 170326e20071101xx s 000 0 eng 10.1007/s00381-007-0369-7 doi (NATIONALLICENCE)springer-10.1007/s00381-007-0369-7 Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes [Elektronische Daten] [Hoon-Chul Kang, Ji Kwon, Young Lee, Heung Kim, Hong Lee, Si Hahn] Objectives: This study sought to characterize epileptic phenotypes in children with nonspecific mitochondrial disease (MD) and to evaluate MD diagnostic approaches. Methods: A retrospective analysis of the medical, electroencephalogram, and laboratory records of 142 patients with epilepsy was performed. The patients were evaluated for MD, and 124 patients were included in the final cohort. The MD criteria used included an oral glucose lactate stimulation test (OGLST) and urine organic acid/plasma amino acid (UOA/PAA) assays as metabolic indicators of modified Walker criteria, as suggested by Bernier et al. (Neurology 59:1406-1411, 2002). Results: Twenty-two patients were classified as having definite MD (9), probable MD (5), possible MD (6), or pyruvate dehydrogenase (PDH) deficiency (3), including one patient which showed a respiratory chain (RC) defect and PDH deficiency. Seven out of eight patients in whom significant RC defects were observed showed complex I defects. In 14 patients, epileptic seizures start at infantile ages. Of 17 patients who substantially presented generalized seizures, 4 patients started with partial seizures. Five patients consistently presented only partial seizures. The OGLST and UOA/PAA assays were useful for a more precise diagnosis of MD, although low positive predictive value of the OGLST was regrettable. No patient was classified as definite MD by Walker's original criteria, but the use of our revised MD criteria resulted in the classification of nine additional patients as definite MD. Conclusions: MD manifested considerable diverse epileptic phenotypes and should be considered in the differential diagnosis of epilepsy in children with unexplained encephalomyopathy and progressive and fluctuating clinical courses. Springer-Verlag, 2007 Mitochondrial disease nationallicence Epilepsy nationallicence Children nationallicence Epileptic phenotypes nationallicence Kang Hoon-Chul Department of Pediatrics, Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine, Sang-gye 7 Dong 761-1, 139-707, Nowon-gu, Seoul, South Korea aut Kwon Ji Department of Pediatrics, Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine, Sang-gye 7 Dong 761-1, 139-707, Nowon-gu, Seoul, South Korea aut Lee Young Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital, Brain Research Institute, Yonsei University College of Medicine, 137 Shinchon Dong, 120-752, Seodaemun-gu, Seoul, South Korea aut Kim Heung Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital, Brain Research Institute, Yonsei University College of Medicine, 137 Shinchon Dong, 120-752, Seodaemun-gu, Seoul, South Korea aut Lee Hong Department of Pediatrics, Chuncheon Catholic Hospital, Hallym University College of Medicine, Kyo Dong 153, 200-704, Chuncheon, South Korea aut Hahn Si Department of Laboratory Medicine and Pathology, Department of Medical Genetics, Mayo Clinic, 55905, Rochester, MN, USA aut Child's Nervous System Springer-Verlag 23/11(2007-11-01), 1301-1307 0256-7040 23:11<1301 2007 23 381 https://doi.org/10.1007/s00381-007-0369-7 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00381-007-0369-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kang Hoon-Chul Department of Pediatrics, Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine, Sang-gye 7 Dong 761-1, 139-707, Nowon-gu, Seoul, South Korea aut NATIONALLICENCE 700 1- Kwon Ji Department of Pediatrics, Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine, Sang-gye 7 Dong 761-1, 139-707, Nowon-gu, Seoul, South Korea aut NATIONALLICENCE 700 1- Lee Young Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital, Brain Research Institute, Yonsei University College of Medicine, 137 Shinchon Dong, 120-752, Seodaemun-gu, Seoul, South Korea aut NATIONALLICENCE 700 1- Kim Heung Department of Pediatrics, Pediatric Epilepsy Clinics, Severance Children's Hospital, Brain Research Institute, Yonsei University College of Medicine, 137 Shinchon Dong, 120-752, Seodaemun-gu, Seoul, South Korea aut NATIONALLICENCE 700 1- Lee Hong Department of Pediatrics, Chuncheon Catholic Hospital, Hallym University College of Medicine, Kyo Dong 153, 200-704, Chuncheon, South Korea aut NATIONALLICENCE 700 1- Hahn Si Department of Laboratory Medicine and Pathology, Department of Medical Genetics, Mayo Clinic, 55905, Rochester, MN, USA aut NATIONALLICENCE 773 0- Child's Nervous System Springer-Verlag 23/11(2007-11-01), 1301-1307 0256-7040 23:11<1301 2007 23 381 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer