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Results 1 - 8 of 8 for hemimegalencephaly
  1. ... 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 ...
  2. ... related to overgrowth of tissues. These conditions include hemimegalencephaly; fibroadipose hyperplasia; and a condition called congenital lipomatous ...
  3. ... 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 ...
  4. ... 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): ...
  5. ... 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( ...
  6. ... AM. Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 2000 Apr 25;54(8):1701-3. ...
  7. ... both sides of the brain may be enlarged (hemimegalencephaly or megalencephaly) or have too many ridges on ...
  8. Birth Disorders of the Brain and Spinal Cord From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Cerebellar Disorders/Specifics ... Cerebellar Disorders ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Craniofacial Abnormalities/Specifics ... Craniofacial ...