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Results 1 - 10 of 20 for "Epilepsy," mitochondrial
  1. GM3 synthase deficiency 
    ... Procaccio V, Rotig A, Paquis-Flucklinger V. Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. Eur J ...
    https://medlineplus.gov/genetics/condition/gm3-synthase-deficiency - Genetics
  2. 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
  3. 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
  4. 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
  5. Myoclonic epilepsy with ragged-red fibers 
    ... Turnbull DM, Omer SE, Taylor RW. A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  6. 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
  7. CLPB deficiency 
    ... 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/condition/clpb-deficiency - Genetics
  8. Mitochondrial DNA 
    ... can cause the signs and symptoms of myoclonic epilepsy with ragged-red fibers (MERRF). These genes provide instructions for making tRNA molecules, which are essential for protein production within mitochondria.One particular mutation in the MT-TK gene ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  9. Myoclonic epilepsy myopathy sensory ataxia 
    ... during exercise (exercise intolerance). ... gamma (pol γ). Pol γ functions in mitochondria, which are structures within cells that use oxygen ...
    https://medlineplus.gov/...yoclonic-epilepsy-myopathy-sensory-ataxia - Genetics
  10. Mitochondrial complex I deficiency 
    ... any time from birth to adulthood.People with mitochondrial complex I deficiency typically have neurological problems, such as abnormal brain function (encephalopathy), recurrent seizures (epilepsy), intellectual disability, difficulty coordinating movements (ataxia), or involuntary ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
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