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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 12 - 18 (7page)
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Malformations of cortical development (MCD) cover a broad spectrum of developmental disorders which cause the various clinical manifestations including epilepsy, developmental delay, and intellectual disability. MCD have been clinically classified based on the disruption of developmental processes such as proliferation, migration, and organization. Molecular genetic studies of MCD have improved our understanding of these disorders at a molecular level beyond the clinical classification. These recent advances are resulted from the development of massive parallel sequencing technology, also known as next-generation sequencing (NGS), which has allowed researchers to uncover novel molecular genetic pathways associated with inherited or de novo mutations. Although an increasing number of disease-related genes or genetic variations have been identified, genotype-phenotype correlation is hampered when the biological or pathological functions of identified genetic variations are not fully understood. To elucidate the causality of genetic variations, in vivo disease models that reflect these variations are required. In the current review, we review the use of NGS technology to identify genes involved in MCD, and discuss how the functions of these identified genes can be validated through in vivo disease modeling.
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참고문헌 (46)
참고문헌 신청
Barkovich AJ / 2012 / A developmental and genetic classification for malformations of cortical development : update 2012 / Brain 135:1348~1369
Pang T / 2008 / Malformations of cortical development / Neurologist 14:181~191
Guerrini R / 2005 / Genetic malformations of the cerebral cortex and epilepsy / Epilepsia 46(Supp1):32~37
Manzini MC / 2011 / What disorders of cortical development tell us about the cortex : one plus one does not always make two / Curr Opin Genet Dev 21:333~339
Bilgüvar K / 2010 / Wholeexome sequencing identifies recessive WDR62 mutations in severe brain malformations / Nature 467:207~210
Pang T / 2008 / Malformations of cortical development / Neurologist 14:181~191
Guerrini R / 2005 / Genetic malformations of the cerebral cortex and epilepsy / Epilepsia 46(Supp1):32~37
Manzini MC / 2011 / What disorders of cortical development tell us about the cortex : one plus one does not always make two / Curr Opin Genet Dev 21:333~339
Bilgüvar K / 2010 / Wholeexome sequencing identifies recessive WDR62 mutations in severe brain malformations / Nature 467:207~210
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