| H01835 | |
| H number | H01835 |
| Name | Neuronal migration disorder |
| Description | 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. |
| Category | Congenital malformation |
| Network | nt06501 HH signaling |
| Gene | - |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA05.5 ICD-10: Q04 MeSH: D054081 |
| Reference | PMID:10515161 AUTHORS Copp AJ, Harding BN TITLE Neuronal migration disorders in humans and in mouse models--an overview. JOURNAL Epilepsy Res 36:133-41 (1999) DOI:10.1016/S0920-1211(99)00047-9 PMID:26541977 AUTHORS Moffat JJ, Ka M, Jung EM, Kim WY TITLE Genes and brain malformations associated with abnormal neuron positioning. JOURNAL Mol Brain 8:72 (2015) DOI:10.1186/s13041-015-0164-4 PMID:23495356 AUTHORS Moon HM, Wynshaw-Boris A TITLE Cytoskeleton in action: lissencephaly, a neuronal migration disorder. JOURNAL Wiley Interdiscip Rev Dev Biol 2:229-45 (2013) DOI:10.1002/wdev.67 |