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Results 1 - 7 of 7 for Hemimegalencephaly
  1. AKT3 gene 
    ... can also cause a brain malformation called isolated hemimegalencephaly. This brain abnormality is an enlargement of one ... the AKT3 gene changes that result in isolated hemimegalencephaly are gain-of-function, ultimately leading to increased ...
    https://medlineplus.gov/genetics/gene/akt3 - Genetics
  2. PIK3CA gene 
    ... related to overgrowth of tissues. These conditions include hemimegalencephaly; fibroadipose hyperplasia; and a condition called congenital lipomatous ...
    https://medlineplus.gov/genetics/gene/pik3ca - Genetics
  3. MTOR gene 
    ... surface of the brain (the cerebral cortex), and hemimegalencephaly, which is enlargement of one side of the ... genetic changes that cause focal cortical dysplasia and hemimegalencephaly are gain-of-function mutations. They abnormally increase ...
    https://medlineplus.gov/genetics/gene/mtor - Genetics
  4. TUBB3 gene 
    ... R, Pilz DT, Cushion TD. Tubulin genes and malformations of cortical development. Eur J Med Genet. 2018 Dec;61(12): ... Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A. 2016 Feb;170A( ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  5. TUBB2B gene 
    ... the brain (the cortex), which are classified as malformations of cortical development. These individuals do not have problems with extraocular ... R, Pilz DT, Cushion TD. Tubulin genes and malformations of cortical development. Eur J Med Genet. 2018 Dec;61(12): ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  6. Septo-optic dysplasia 
    ... AM. Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 2000 Apr 25;54(8):1701-3. ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics
  7. Smith-Kingsmore syndrome 
    ... both sides of the brain may be enlarged (hemimegalencephaly or megalencephaly) or have too many ridges on ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics