| H01835 | |
| H番号 | H01835 |
| 名称 | 神経細胞移動異常症 |
| 概要 | Neuronal migration disorders (NMD) are developmental malformations of the cerebral hemispheres, frequently associated with severe epilepsy. They can be defined as cerebral malformations characterised by malpositioning and faulty differentiation of cortical grey matter. Neuronal positioning is an integral part of the coordinated steps comprising neural circuit formation in embryonic and neonatal development. Correct positioning of neurons by normal migration plays a critical role in establishing cognitive functions and emotion. The causes of brain malformations associated with positioning and migration defects are varied and include genetic mutations and environmental toxins. Studies of neuronal migration disorders have progressed due to advances in molecular genetics and brain magnetic resonance imaging. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06501 HH signaling |
| 病因遺伝子 | - |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA05.5 ICD-10: Q04 MeSH: D054081 |
| 文献 | PMID:10515161 著者 Copp AJ, Harding BN タイトル Neuronal migration disorders in humans and in mouse models--an overview. 雑誌 Epilepsy Res 36:133-41 (1999) DOI:10.1016/S0920-1211(99)00047-9 PMID:26541977 著者 Moffat JJ, Ka M, Jung EM, Kim WY タイトル Genes and brain malformations associated with abnormal neuron positioning. 雑誌 Mol Brain 8:72 (2015) DOI:10.1186/s13041-015-0164-4 PMID:23495356 著者 Moon HM, Wynshaw-Boris A タイトル Cytoskeleton in action: lissencephaly, a neuronal migration disorder. 雑誌 Wiley Interdiscip Rev Dev Biol 2:229-45 (2013) DOI:10.1002/wdev.67 |