Abstract
Brain malformations can have varying effects depending on when and which part of the brain is affected. Categorizing these malformations is difficult since multiple malformations can occur due to the simultaneous occurrence of events in various regions. Early disturbances can affect later developmental processes. Imaging characteristics and pattern recognition can suggest specific genetic diagnoses or involvement of molecular pathways. This chapter will discuss the most common brain malformations and their possible genetic causes. To help the reader recognize the malformation and suggest possible diagnoses based on the location and extent of the malformation.
| Original language | English |
|---|---|
| Title of host publication | Neurogenetics for the Practitioner |
| Editors | G.M. Pastores |
| Publisher | Elsevier |
| Pages | 399-419 |
| Number of pages | 21 |
| ISBN (Electronic) | 9780323994170 |
| ISBN (Print) | 9780323958592 |
| DOIs | |
| Publication status | Published - 2024 |
Keywords
- Anomalies of midbrain-hindbrain development
- Brain malformation
- Cerebellum
- Cerebral cortex
- Corpus callosum
- Malformations of cortical development (MCD)
- MRI
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