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Results 1 - 10 of 23 for Malformation of cortical development
  1. TUBB2B gene 
    ... the brain (the cortex), which are classified as malformations of cortical development. These individuals do not have problems with extraocular ... R, Pilz DT, Cushion TD. Tubulin genes and malformations of cortical development. Eur J Med Genet. 2018 Dec;61(12): ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  2. TUBB3 gene 
    ... R, Pilz DT, Cushion TD. Tubulin genes and malformations of cortical development. Eur J Med Genet. 2018 Dec;61(12): ... Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A. 2016 Feb;170A( ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  3. Septo-optic dysplasia 
    ... AM. Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 2000 Apr 25;54(8):1701-3. ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics
  4. MTOR gene 
    ... spectrum of neurological disorders that result from abnormal development of the brain. This spectrum includes focal cortical dysplasia, which is characterized by malformation of the outer surface of the brain (the ...
    https://medlineplus.gov/genetics/gene/mtor - Genetics
  5. TSC1 gene 
    ... hamartin in different types of cells disrupts normal development and leads to the growth ... This disorder involves malformations of the cerebrum, the large, frontal part of ...
    https://medlineplus.gov/genetics/gene/tsc1 - Genetics
  6. Polymicrogyria 
    ... Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. Neurology. 2004 May 25;62(10):1722-8. ... syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A. 2006 Nov 15; ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  7. Autosomal recessive primary microcephaly 
    ... Microcephaly 2, primary, autosomal recessive, with or without cortical malformations Genetic Testing Registry: Microcephaly 3, primary, autosomal recessive ...
    https://medlineplus.gov/.../autosomal-recessive-primary-microcephaly - Genetics
  8. Subcortical band heterotopia 
    ... S, Kauffman MA. Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration ... Dobyns WB, Guerrini R. Genetic Basis of Brain Malformations. Mol Syndromol. 2016 ... PubMed or Free article on PubMed Central
    https://medlineplus.gov/.../condition/subcortical-band-heterotopia - Genetics
  9. Periventricular heterotopia 
    ... Shuttling of Proteins through Vesicles and Actin in Cortical Development and Disease. Scientifica (Cairo). 2012;2012:480129. doi: ...
    https://medlineplus.gov/.../condition/periventricular-heterotopia - Genetics
  10. FOXG1 syndrome 
    ... C. Transcription and Beyond: Delineating FOXG1 Function in Cortical Development and Disorders. Front Cell Neurosci. 2020 Feb 25; ...
    https://medlineplus.gov/genetics/condition/foxg1-syndrome - Genetics
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