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Current Neurology and Neuroscience Reports

Published in:

01-04-2011

Molecular Genetics of Neuronal Migration Disorders

Author: Judy S. Liu

Published in: Current Neurology and Neuroscience Reports | Issue 2/2011

Abstract

Cortical malformations associated with defects in neuronal migration result in severe developmental consequences including intractable epilepsy and intellectual disability. Genetic causes of migration defects have been identified with the advent and widespread use of high-resolution MRI and genetic techniques. Thus, the full phenotypic range of these genetic disorders is becoming apparent. Genes that cause lissencephaly, pachygyria, subcortical band heterotopia, and periventricular nodular heterotopias have been defined. Many of these genes are involved in cytoskeletal regulation including the function of microtubules (LIS1, TUBA1A,TUBB3, and DCX) and of actin (FilaminA). Thus, the molecular pathways regulating neuronal migration including the cytoskeletal pathways appear to be defined by human mutation syndromes. Basic science, including cell biology and animal models of these disorders, has informed our understanding of the pathogenesis of neuronal migration disorders and further progress depends on the continued integration of the clinical and basic sciences.

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Title: Molecular Genetics of Neuronal Migration Disorders
Author: Judy S. Liu
Publication date: 01-04-2011
Publisher: Current Science Inc.
Published in: Current Neurology and Neuroscience Reports / Issue 2/2011
Print ISSN: 1528-4042
Electronic ISSN: 1534-6293
DOI: https://doi.org/10.1007/s11910-010-0176-5

2024 ASCO Annual Meeting

Springer Medicine

Molecular Genetics of Neuronal Migration Disorders

Abstract

2024 ASCO Annual Meeting

Springer Medicine

Abstract

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