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Results 1 - 10 of 119 for Brain malformation
  1. TUBB3 gene 
    ... a condition called cortical dysplasia, complex, with other brain malformations 1 (CDCBM1). The brain abnormalities associated with this ... and progressive muscle stiffness (spasticity) in affected individuals. Brain malformations in CDCBM1 result from abnormal development of the ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  2. 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
  3. TUBB2B gene 
    ... eyelids (ptosis). In addition, affected individuals have a brain malformation called polymicrogyria, in which the surface of the ... typically lead to intellectual disability in affected individuals. Brain malformations commonly associated with TUBB2B gene mutations result from ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  4. Dandy-Walker malformation 
    ... location in the brain during development. These additional brain malformations are associated with more severe signs and symptoms. ... caused by mutations in specific genes. However, the brain malformations associated with Dandy-Walker malformation often occur as ...
    https://medlineplus.gov/genetics/condition/dandy-walker-malformation - Genetics
  5. AKT3 gene 
    ... involving the AKT3 gene can also cause a brain malformation called isolated hemimegalencephaly. This brain abnormality is an ... CA. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron. 2012 Apr 12;74(1):41-8. ...
    https://medlineplus.gov/genetics/gene/akt3 - Genetics
  6. Familial focal epilepsy with variable foci 
    ... relative.Some individuals with FFEVF also have a brain malformation called focal cortical dysplasia. Seizures in these individuals ... of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol. 2014 May;75(5):782-7. ...
    https://medlineplus.gov/...amilial-focal-epilepsy-with-variable-foci - Genetics
  7. Developmental and epileptic encephalopathy 1 
    ... spasms can also have nongenetic causes, such as brain malformations, other disorders that affect brain function, or brain damage. In addition, changes in ...
    https://medlineplus.gov/...elopmental-and-epileptic-encephalopathy-1 - Genetics
  8. Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 
    ... polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. Neuropediatrics. ...
    https://medlineplus.gov/...ogyria-polydactyly-hydrocephalus-syndrome - Genetics
  9. DYNC1H1 gene 
    ... intellectual disability. These affected individuals often have a brain malformation called polymicrogyria. Normally, the surface of the brain has many ridges or folds, called gyri. In ...
    https://medlineplus.gov/genetics/gene/dync1h1 - Genetics
  10. SPECC1L gene 
    ... malformations that can cause difficulty breathing or swallowing, brain malformations, distinct facial features, and genital abnormalities in males. ...
    https://medlineplus.gov/genetics/gene/specc1l - Genetics
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