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Results 1 - 10 of 10 for Complex cortical dysplasia with other brain malformations 1
  1. TUBB3 gene 
    ... TUBB3 gene can also cause a condition called cortical dysplasia, complex, with other brain malformations 1 (CDCBM1). The brain abnormalities associated with this condition ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  2. TSC1 gene 
    ... of Taylor balloon cell type. This disorder involves malformations of the cerebrum, the large, frontal part of the brain that is ... TSC COMPLEX SUBUNIT 1; TSC1 FOCAL CORTICAL DYSPLASIA, TYPE II; ...
    https://medlineplus.gov/genetics/gene/tsc1 - Genetics
  3. Polymicrogyria 
    ... Bilateral parasagittal parieto-occipital polymicrogyria Genetic Testing Registry: Complex cortical dysplasia with other brain malformations 7 Bilateral frontal polymicrogyria Bilateral frontoparietal polymicrogyria Bilateral ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  4. MTOR gene 
    ... described above), the genetic changes that cause focal cortical dysplasia and hemimegalencephaly ... protein 1 FKBP-rapamycin associated protein FKBP12-rapamycin complex-associated ...
    https://medlineplus.gov/genetics/gene/mtor - Genetics
  5. Familial focal epilepsy with variable foci 
    ... relative.Some individuals with FFEVF also have a brain malformation called focal cortical dysplasia. Seizures in these individuals are typically not well- ...
    https://medlineplus.gov/...amilial-focal-epilepsy-with-variable-foci - Genetics
  6. Lennox-Gastaut syndrome 
    ... nervous system. The condition can also 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
  7. Smith-Kingsmore syndrome 
    ... Dobyns WB. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 Jul 1;73(7):836-845. doi: 10.1001/jamaneurol. ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  8. DEPDC5 gene 
    ... stopping) the activity of a complex called mTOR complex 1 (mTORC1) that is integral to the mTOR pathway.In the brain, the mTOR pathway regulates many processes, including the ...
    https://medlineplus.gov/genetics/gene/depdc5 - Genetics
  9. Curing the Epilepsies: The Promise of Research From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Epilepsy/Statistics and Research ... Epilepsy ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Request free mailed ...
    https://www.ninds.nih.gov/.../curing-epilepsies-promise-research - External Health Links
  10. Incontinentia Pigmenti From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Skin Pigmentation Disorders/Specifics ... Skin Pigmentation Disorders ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find ...
    https://rarediseases.info.nih.gov/.../6778/incontinentia-pigmenti - External Health Links