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Results 1 - 9 of 9 for Cortical dysplasia
  1. MTOR gene 
    ... development of the brain. This spectrum includes focal cortical dysplasia, which is characterized by malformation of the outer ... described above), the genetic changes that cause focal cortical dysplasia and hemimegalencephaly are gain-of-function mutations. They ...
    https://medlineplus.gov/genetics/gene/mtor - Genetics
  2. TSC1 gene 
    ... gene can cause a disorder known as focal cortical dysplasia of Taylor balloon cell type. This disorder involves ... that is responsible for thinking and learning. Focal cortical dysplasia causes severe recurrent seizures (epilepsy) in affected individuals. ...
    https://medlineplus.gov/genetics/gene/tsc1 - Genetics
  3. TUBB3 gene 
    ... TUBB3 gene can also cause a condition called cortical dysplasia, complex, with other brain malformations 1 (CDCBM1). The ... Tests of TUBB3 PubMed TUBULIN, BETA-3; TUBB3 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CDCBM1 NCBI ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  4. NPRL3 gene 
    ... PB, Bahlo M, Lockhart PJ, Leventer RJ. Familial cortical dysplasia caused by mutation in the mammalian target of ... complex genes in familial focal epilepsies and focal cortical dysplasia. Epilepsia. 2016 Jun;57(6):994-1003. doi: ...
    https://medlineplus.gov/genetics/gene/nprl3 - Genetics
  5. DEPDC5 gene 
    ... F, Picard F. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann Neurol. 2015 Apr; ... complex genes in familial focal epilepsies and focal cortical dysplasia. Epilepsia. 2016 Jun;57(6):994-1003. doi: ...
    https://medlineplus.gov/genetics/gene/depdc5 - Genetics
  6. PIK3R2 gene 
    ... variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. Eur J Hum Genet. 2016 Aug;24(9): ...
    https://medlineplus.gov/genetics/gene/pik3r2 - Genetics
  7. NPRL2 gene 
    ... complex genes in familial focal epilepsies and focal cortical dysplasia. Epilepsia. 2016 Jun;57(6):994-1003. doi: ...
    https://medlineplus.gov/genetics/gene/nprl2 - Genetics
  8. 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
  9. FGFR3 gene 
    ... corpus callosum), and a loss of brain cells (cortical atrophy). It is thought that the ... The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics