Mutation in the mitochondrial tRNAIle gene causes progressive myoclonus epilepsy

Seizure

Volumn 22, Issue 6, 2013, Pages 483-486

  Zsurka, Gábor ^a   Becker, Felicitas ^b   Heinen, Markus ^a   Gdynia, Hans Jürgen ^c   Lerche, Holger ^b   Kunz, Wolfram S ^a   Weber, Yvonne G ^b  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY OF ULM   (Germany)

Author keywords

MERRF; Metabolism; Myoclonic; Myoclonic epilepsy with ragged red fibres; Photosensitivity; Progressive

Indexed keywords

CITRATE SYNTHASE; CYTOCHROME C OXIDASE; ETIRACETAM; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); TRANSFER RNA; VALPROIC ACID;

ADULT; ANTICONVULSANT THERAPY; ARTICLE; BRAIN ATROPHY; CASE REPORT; DRUG RESPONSE; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAPHY; ENZYME ACTIVITY; EPILEPTIC DISCHARGE; EPISODIC MEMORY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HEARING IMPAIRMENT; HUMAN; MEMORY DISORDER; MUSCLE BIOPSY; MYOCLONUS EPILEPSY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PHOTOSTIMULATION; PRIORITY JOURNAL; RESPIRATORY CHAIN; SKELETAL MUSCLE; SPIKE WAVE; VERBAL MEMORY; WHITE MATTER LESION; WORKING MEMORY;

ADULT; ELECTROENCEPHALOGRAPHY; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIA, MUSCLE; MUSCLE, SKELETAL; MUTATION; MYOCLONIC EPILEPSIES, PROGRESSIVE; RNA, TRANSFER;

EID: 84878877031     PISSN: 10591311     EISSN: 15322688     Source Type: Journal    
DOI: 10.1016/j.seizure.2013.03.003     Document Type: Article

References (12)

1. L.F. de Siqueira Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects Journal of Neurology 257 2012 1612 1619
2. G. Zsurka, K.G. Hampel, I. Nelson, C. Jardel, S.R. Mirandola, and R. Sassen Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene Neurology 74 2010 507 510
3. S. DiMauro, M. Hirano, P. Kaufmann, K. Tanji, M. Sano, and D.C. Shungu Clinical features and genetics of myoclonic epilepsy with ragged red fibers Advances in Neurology 89 2002 217 229
4. A.P. Kudin, G. Zsurka, C.E. Elger, and W.S. Kunz Mitochondrial involvement in temporal lobe epilepsy Experimental Neurology 218 2009 326 332
5. S. Ito, W. Shirai, M. Asahina, and T. Hattori Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation American Journal of Neuroradiology 29 2008 392 395
6. S. Vielhaber, G. Debska-Vielhaber, V. Peeva, S. Schoeler, A.P. Kudin, and I. Minin Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion Acta Neuropathologica 125 2012 245 256
7. G. Zsurka, R. Schröder, C. Kornblum, J. Rudolph, R.J. Wiesner, and C.E. Elger Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism Journal of Medical Genetics 41 2004 e124
8. J.W. Yarham, R. McFarland, R.W. Taylor, and J.L. Elson A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations Mitochondrion 12 2012 533 538
9. J.W. Yarham, M. Al-Dosary, E.L. Blakely, C.L. Alston, R.W. Taylor, and J.L. Elson A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations Human Mutation 32 2011 1319 1325
10. E.A. Schon, S. Dimauro, and M. Hirano Human mitochondrial DNA: roles of inherited and somatic mutations Nature Reviews Genetics 13 2012 878 890
11. M. Taniike, H. Fukushima, I. Yanagihara, H. Tsukamoto, J. Tanaka, and H. Fujimura Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy Biochemical and Biophysical Research Communications 186 1986 47 53
12. M. Kaido, H. Fujimura, M. Taniike, H. Yoshikawa, K. Toyooka, and S. Yorifuji Focal cytochrome c oxidase deficiency in the brain and dorsal root ganglia in a case with mitochondrial encephalomyopathy (tRNA(Ile) 4269 mutation): histochemical, immunohistochemical, and ultrastructural study Journal of the Neurological Sciences 131 1995 170 176