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Results 1 - 10 of 28 for West syndrome
  1. CDKL5 gene 
    The CDKL5 gene provides instructions for making a protein that is found in cells and tissues throughout the body. However, it is most active in the brain ...
    https://medlineplus.gov/genetics/gene/cdkl5 - Genetics
  2. Phosphoglycerate dehydrogenase deficiency 
    Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, ...
    https://medlineplus.gov/...phosphoglycerate-dehydrogenase-deficiency - Genetics
  3. STXBP1 encephalopathy 
    STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  4. Developmental and epileptic encephalopathy 1 
    ... syndrome 1 X-linked Ohtahara syndrome X-linked West syndrome Genetic Testing Registry: Developmental and epileptic encephalopathy, 1 Genetic Testing Registry: West syndrome Infantile spasms syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/...elopmental-and-epileptic-encephalopathy-1 - Genetics
  5. FOXG1 gene 
    ... also been identified in several infants diagnosed with West syndrome, a condition characterized by epilepsy that begins in ... Osborne LR, Gimelli G, Minetti C, Zara F. West syndrome associated with 14q12 duplications harboring FOXG1. Neurology. 2011 ...
    https://medlineplus.gov/genetics/gene/foxg1 - Genetics
  6. Beta-propeller protein-associated neurodegeneration 
    ... that resemble those in epileptic syndromes, such as West syndrome or Lennox-Gastaut syndrome.Children with BPAN also ...
    https://medlineplus.gov/...ller-protein-associated-neurodegeneration - Genetics
  7. Lennox-Gastaut syndrome 
    ... infancy (infantile spasms) or a related condition called West syndrome before developing the features of Lennox-Gastaut syndrome. ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  8. Bloom syndrome 
    ... 4.3.393. Citation on PubMed Liu Y, West SC. More complexity to the Bloom's syndrome complex. Genes Dev. 2008 Oct 15;22(20): ...
    https://medlineplus.gov/genetics/condition/bloom-syndrome - Genetics
  9. BLM gene 
    ... gov/books/NBK1398/ Citation on PubMed Liu Y, West SC. More complexity to the Bloom's syndrome complex. Genes Dev. 2008 Oct 15;22(20): ...
    https://medlineplus.gov/genetics/gene/blm - Genetics
  10. Familial acute myeloid leukemia with mutated CEBPA 
    ... nlm.nih.gov/books/NBK47457/ Citation on PubMed West AH, Godley LA, Churpek JE. Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for ...
    https://medlineplus.gov/...acute-myeloid-leukemia-with-mutated-cebpa - Genetics
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