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Results 1 - 5 of 5 for Neurodevelopmental disorder with seizures brain abnormalities
  1. YWHAE gene 
    ... B. YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse. Genet Med. 2023 Jul; ...
    https://medlineplus.gov/genetics/gene/ywhae - Genetics
  2. STXBP1 gene 
    ... I, Tabata H, Nagata KI. MUNC18-1 gene abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development. Acta Neuropathol Commun. 2017 Nov 30;5( ...
    https://medlineplus.gov/genetics/gene/stxbp1 - Genetics
  3. MECP2 gene 
    ... ML, LaSalle JM. The role of MeCP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep. 2010 Apr;12(2):127- ...
    https://medlineplus.gov/genetics/gene/mecp2 - Genetics
  4. ATN1 gene 
    ... CHEDDA can have weak muscle tone (hypotonia), recurring seizures (epilepsy), vision and hearing problems, distinctive facial features, and skeletal abnormalities. Many affected individuals have brain malformations. The ATN1 gene variants that cause CHEDDA ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics
  5. SYNGAP1 gene 
    ... particularly important during a critical period of early brain development that affects ... spectrum disorder, which affects communication and social interaction. Gene mutations ...
    https://medlineplus.gov/genetics/gene/syngap1 - Genetics