Landau-Kleffner Syndrome with Mitochondrial Respiratory Chain-Complex I Deficiency

Pediatric Neurology

Volumn 35, Issue 2, 2006, Pages 158-161

  Kang, Hoon Chul ^a   Kim, Heung Dong ^b   Lee, Young Mok ^b   Han, Si Hoon ^c  

^a Inje University College of Medicine   (South Korea)

^b Yonsei University College of Medicine   (South Korea)

^c MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; CARNITINE; CLONAZEPAM; CORTICOTROPIN; ETHOSUXIMIDE; IMMUNOGLOBULIN; LAMOTRIGINE; MULTIVITAMIN; RIBOFLAVIN; UBIDECARENONE; VALPROIC ACID;

ANTICONVULSANT THERAPY; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHILD DEVELOPMENT; CLINICAL EXAMINATION; CLINICAL FEATURE; COGNITIVE DEFECT; CONDUCTION APHASIA; DISEASE EXACERBATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG MEGADOSE; DRUG TREATMENT FAILURE; ELECTROENCEPHALOGRAM; FEMALE; FIBROBLAST CULTURE; GENE DELETION; HUMAN; KETOGENIC DIET; LANDAU KLEFFNER SYNDROME; MITOCHONDRIAL RESPIRATION; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL;

CHILD, PRESCHOOL; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; LANDAU-KLEFFNER SYNDROME; MITOCHONDRIAL DISEASES;

EID: 33746336630     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2006.01.012     Document Type: Article

References (15)

1. Landau W.M., and Kleffner F.R. Syndrome of acquired aphasia with convulsive disorder in children. Neurology 7 (1957) 523-530
2. Pearl P.L., Carrazana E.J., and Holmes G.L. The Landau-Kleffner syndrome. Epilepsy Curr 1 (2001) 39-45
3. Bergqvist A.G., Chee C.M., Lutchka L.M., and Brooks-Kayal A.R. Treatment of acquired epileptic aphasia with the ketogenic diet. J Child Neurol 14 (1999) 696-701
4. DeVivo D.C., Trifiletti R.R., Jacobson R.I., Ronen G.M., Behmand R.A., and Harik S.I. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 325 (1991) 713-721
5. Wexler I.D., Hemalatha S.G., McConnell J., et al. Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diet. Studies in patients with identical mutations. Neurology 49 (1997) 1655-1661
6. DeVivo D.C., Haymond M.W., Leckie M.P., Bussman Y.L., McDougal Jr. D.B., and Pagliara A.S. The clinical and biochemical implications of pyruvate carboxylase deficiency. J Clin Endocrinol Metab 45 (1977) 1281-1296
7. Nordli D.R., and De Vivo D.C. The ketogenic diet. In: Wyllie E. (Ed). The treatment of epilepsy. 3rd ed. (2001), Lippincott Williams & Wilkins, Philadelphia 1001-1006
8. Santra S., Gilkerson R.W., Davidson M., and Schon E.A. Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells. Ann Neurol 56 (2004) 662-669
9. Bernier F.P., Boneh A., Dennett X., Chow C.W., Cleary M.A., and Thorburn D.R. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59 (2002) 1406-1411
10. Kirby D.M., Crawford M., Cleary M.A., Dahl H.M., Dennett X., and Thorburn D.R. Respiratory chain complex I deficiency. An underdiagnosed energy generation disorder. Neurology 52 (1999) 1255-1264
11. Gillis L., and Kaye E. Diagnosis and management of mitochondrial diseases. Pediatr Clin North Am 49 (2002) 203-219
12. De Vivo D.C., and DiMauro S. Mitochondrial diseases. In: Swaiman K.F. (Ed). Pediatric neurology. Principles & practice. 3rd ed. (1999), Mosby, St. Louis 494-509
13. Smeitink J.A.M., Loeffen J.L.C.M., Triepels R.H., Smeets R.J.P., Trijbels J.M.F., and van den Heuvel L.P. Nuclear genes of human complex I of the mitochondrial electron transport chain. State of the art. Hum Mol Genet 7 (1998) 1573-1579
14. Pitkanen S., Feigenbaum A., Laframboise R., and Robinson B.H. NADH-coenzyme Q reductase (complex I) deficiency. Heterogeneity in phenotype and biochemical findings. J Inher Metab Dis 19 (1996) 675-686
15. Rossi P.G., Parmeggiani A., Posar A., Scaduto M.C., Chiodo S., and Vatti G. Landau-Kleffner syndrome. Long-term follow-up and links with electrical status epilepticus during sleep. Brain Dev 21 (1999) 90-98