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Results 1 - 8 of 8 for "Epilepsy," mitochondrial
  1. MT-TS1 gene 
    ... Hocker J, Pongratz D, Gerbitz KD. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser( ...
    https://medlineplus.gov/genetics/gene/mt-ts1 - Genetics
  2. ST3GAL5 gene 
    ... Procaccio V, Rotig A, Paquis-Flucklinger V. Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. Eur J ...
    https://medlineplus.gov/genetics/gene/st3gal5 - Genetics
  3. MT-TH gene 
    ... TH gene mutation also have features of another mitochondrial disorder called myoclonic epilepsy with ragged-red fibers (MERRF); these additional features ...
    https://medlineplus.gov/genetics/gene/mt-th - Genetics
  4. CLPB gene 
    ... Ostergaard E. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015 ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  5. POLG gene 
    ... This Health Condition MedlinePlus Genetics provides information ... called myoclonic epilepsy myopathy sensory ataxia (MEMSA), which is characterized by ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  6. MT-TL1 gene 
    ... MELAS. They continue to investigate the effects of mitochondrial gene mutations in ... of myoclonic epilepsy with ragged-red fibers (MERRF). These individuals also ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  7. ABAT gene 
    ... infancy. Babies with this disorder have recurrent seizures (epilepsy), movement problems, and profoundly delayed development. They may ... 3-amino-2-methylpropionate transaminase 4-aminobutyrate aminotransferase, ... 4-aminobutyrate transaminase GABA aminotransferase GABA transaminase ...
    https://medlineplus.gov/genetics/gene/abat - Genetics
  8. MT-TK gene 
    ... that the A8296G mutation impairs the ability of mitochondria to help trigger insulin ... with myoclonic epilepsy with ragged-red fibers (MERRF). This condition is ...
    https://medlineplus.gov/genetics/gene/mt-tk - Genetics