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Results 1 - 7 of 7 for Cortical dysplasia
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. Septo-optic dysplasia 
    ... AM. Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 2000 Apr 25;54(8):1701-3. doi: 10.1212/wnl.54.8.1701. Citation on PubMed Patel L, McNally RJ, ... and septo-optic dysplasia in Northwest England. J Pediatr. 2006 Jan;148( ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics
  7. Pyle disease 
    ... H, Rivolta C, Superti-Furga A, Baron R. Cortical-Bone Fragility--Insights from ... M. Pyle metaphyseal dysplasia in an African child: Case report and review ...
    https://medlineplus.gov/genetics/condition/pyle-disease - Genetics