Lissencephaly and Band Heterotopia: LIS1, TUBA1A, and DCX Mutations in Hungary

No abstract is available for this paper.

• Publication year

  2012

• Venue

  Journal of Child Neurology

• Publication date

  2012-03-08

• Fields of study

  Medicine, Psychology

• Identifiers
  DOI 10.1177/0883073811436326PMID 22408144
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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• Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans

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• Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)

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• Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation

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• Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

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• Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization

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• LIS1 and DCX: Implications for Brain Development and Human Disease in Relation to Microtubules

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