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Results 1 - 10 of 18 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. Fukuyama congenital muscular dystrophy 
    Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the muscles, brain, and eyes. Congenital muscular dystrophies are ...
    https://medlineplus.gov/.../fukuyama-congenital-muscular-dystrophy - Genetics
  3. Familial focal epilepsy with variable foci 
    ... FFEVF also have a brain malformation called focal cortical dysplasia. Seizures in these individuals are typically not well- ... 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
  4. Polymicrogyria 
    ... parasagittal parieto-occipital polymicrogyria Genetic Testing Registry: Complex cortical dysplasia with other brain malformations 7 Bilateral frontal polymicrogyria ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  5. 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
  6. 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
  7. Smith-Kingsmore syndrome 
    ... Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 Jul 1; ... somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. Neurol Genet. 2016 Oct 31;2( ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  8. 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
  9. 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
  10. Lennox-Gastaut syndrome 
    ... arise from brain malformations such as forms of cortical dysplasia, which are abnormalities in the outer surface of ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
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