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Results 1 - 10 of 11 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. 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
  3. 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
  4. 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
  5. 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
  6. HSD10 disease 
    ... have additional features of this condition, such as epilepsy, movement problems, and hearing loss. ... This protein is located within mitochondria, the energy-producing centers inside cells, where it ...
    https://medlineplus.gov/genetics/condition/hsd10-disease - Genetics
  7. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 
    ... the condition. Some affected individuals develop recurrent seizures (epilepsy), speech difficulties (dysarthria), learning problems, or mild deterioration ...
    https://medlineplus.gov/...al-cord-involvement-and-lactate-elevation - Genetics
  8. Alpers-Huttenlocher syndrome 
    ... seizures that do not improve with treatment (intractable epilepsy), loss of mental and movement abilities (psychomotor regression), ... polymerase gamma (pol γ). Pol γ functions in mitochondria, which are structures within cells that use oxygen ...
    https://medlineplus.gov/.../condition/alpers-huttenlocher-syndrome - Genetics
  9. Infantile-onset spinocerebellar ataxia 
    ... deafness.Individuals with IOSCA may have recurrent seizures (epilepsy). These seizures can lead to severe brain dysfunction ( ... and Twinky. These proteins are found in the mitochondria, which are structures within cells that convert the ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  10. TRNT1 deficiency 
    ... the inner ear (sensorineural hearing loss), recurrent seizures (epilepsy), and problems with the kidneys or heart.TRNT1 ... suspect that protein synthesis in cellular structures called mitochondria, which are the energy-producing centers of cells, ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
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