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Complex cortical dysplasia with other brain malformations 1
- ... TUBB3 gene can also cause a condition called cortical dysplasia, complex, with other brain malformations 1 (CDCBM1). The brain abnormalities associated with this condition ...
- ... 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; ...
- ... Bilateral parasagittal parieto-occipital polymicrogyria Genetic Testing Registry: Complex cortical dysplasia with other brain malformations 7 Bilateral frontal polymicrogyria Bilateral frontoparietal polymicrogyria Bilateral ...
- ... described above), the genetic changes that cause focal cortical dysplasia and hemimegalencephaly ... protein 1 FKBP-rapamycin associated protein FKBP12-rapamycin complex-associated ...
- ... relative.Some individuals with FFEVF also have a brain malformation called focal cortical dysplasia. Seizures in these individuals are typically not well- ...
- ... nervous system. The condition can also arise from brain malformations such as forms of cortical dysplasia, which are abnormalities in the outer surface of ...
- ... 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. ...
- ... 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 ...
- Curing the Epilepsies: The Promise of Research
(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 ...