Abstract
Advances in genetic tools and sequencing technology in the past few years have vastly expanded our understanding of the genetics of neurodevelopmental disorders. Recent high-throughput sequencing analyses of structural brain malformations, cognitive and neuropsychiatric disorders, and localized cortical dysplasias have uncovered a diverse genetic landscape beyond classic Mendelian patterns of inheritance. The underlying genetic causes of neurodevelopmental disorders implicate numerous cell biological pathways critical for normal brain development.
Keywords:
autism; brain malformations; neurodevelopment; somatic mutations.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Alleles
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Cerebral Cortex / growth & development
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Cerebral Cortex / metabolism
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Cerebral Cortex / pathology*
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Child
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Child Development Disorders, Pervasive / genetics*
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Child Development Disorders, Pervasive / pathology
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Cytoskeleton / genetics
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Cytoskeleton / pathology
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Developmental Disabilities / genetics
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Developmental Disabilities / pathology
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Fingers / abnormalities
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Fingers / pathology
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Humans
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Intellectual Disability / genetics
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Intellectual Disability / pathology
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Malformations of Cortical Development / genetics*
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Malformations of Cortical Development / pathology
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Microcephaly / genetics
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Microcephaly / pathology
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Muscle Hypotonia / genetics
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Muscle Hypotonia / pathology
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Myopia / genetics
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Myopia / pathology
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Neurons / metabolism
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Neurons / pathology*
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Obesity / genetics
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Obesity / pathology
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Retinal Degeneration