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Results 1 - 10 of 11 for Progressive encephalopathy
  1. TH gene 
    ... Strassburg HM, Wevers RA. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol. 2003;54 ...
    https://medlineplus.gov/genetics/gene/th - Genetics
  2. CSTB gene 
    ... believed to cause the signs and symptoms of progressive myoclonic epilepsy type 1, ... encephalopathy (abnormal brain function). These symptoms resemble those seen ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  3. RRM2B gene 
    ... cells. MedlinePlus ... an eye condition called progressive external ophthalmoplegia. This disorder weakens the muscles that ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  4. OPA1 gene 
    ... weakness in the muscles that control eye movement (progressive external ... dysfunction (encephalopathy), loss of sensation and weakness in the limbs ( ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  5. TWNK gene 
    ... Lonnqvist T. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain. 2007 Nov;130(Pt ... Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain. 2009 Jun;132(Pt 6):1553-62. ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  6. SERPINI1 gene 
    ... SERPINI1 gene have been found to cause familial encephalopathy with neuroserpin inclusion bodies (FENIB). Each of these ... Lomas DA. Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase ...
    https://medlineplus.gov/genetics/gene/serpini1 - Genetics
  7. CACNA1A gene 
    ... also cause a form of developmental and epileptic encephalopathy, which is a group of conditions characterized by ... and developmental delays. People with developmental and epileptic encephalopathy caused by CACNA1A gene variants often experience intellectual ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  8. POLG gene 
    ... Condition MedlinePlus Genetics provides information about Mitochondrial neurogastrointestinal encephalopathy disease More About This Health Condition Variants in ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  9. MECP2 gene 
    ... the MECP2 gene cause MECP2-related severe neonatal encephalopathy. This condition almost exclusively affects males and is ... signs and symptoms of MECP2-related severe neonatal encephalopathy. More About This Health Condition Mutations in the ...
    https://medlineplus.gov/genetics/gene/mecp2 - Genetics
  10. TBC1D24 gene 
    ... people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of ... disorders, including familial infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME). These mutations likely result in ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
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