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Results 1 - 9 of 9 for Focal cortical dysplasia
  1. MTOR gene 
    ... abnormal development of the brain. This spectrum includes focal cortical dysplasia, which is characterized by malformation of the outer ... syndrome (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. Familial focal epilepsy with variable foci 
    ... with FFEVF also have a brain malformation called focal cortical dysplasia. Seizures in these individuals are typically not well- ... enlargement of these cells, which is characteristic of focal cortical dysplasia.It is unknown why some individuals with the ...
    https://medlineplus.gov/...amilial-focal-epilepsy-with-variable-foci - Genetics
  3. TSC1 gene 
    ... TSC1 gene can cause a disorder known as focal cortical dysplasia of Taylor balloon cell type. This disorder involves ... brain 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
  4. DEPDC5 gene 
    ... Chassoux F, Picard F. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann Neurol. 2015 Apr; ... GATOR 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
  5. Smith-Kingsmore syndrome 
    ... MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 Jul 1; ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  6. NPRL3 gene 
    ... GATOR 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
  7. PIK3R2 gene 
    ... PIK3R2 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
  8. NPRL2 gene 
    ... GATOR 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
  9. Polymicrogyria 
    ... easily controlled with medication. Some people with unilateral focal polymicrogyria do ... Bilateral frontal polymicrogyria ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics