Table 1. Classification of cerebral malformations according to cell type origins and morphogenic defects.
Cell type | Cellular function | Classification | Morphogenic defects | Genes |
---|---|---|---|---|
Neural progenitors |
Decreased
proliferation Increased apoptosis Increased proliferation Decreased apoptosis |
GROUP I |
I.A and III.D :
Microcephalies I.B : Megalocephalies |
MCPH1-12, LIS1, NDE1, TBR2 FGFR3, PTEN, GLI3, PTCH1 |
Neurons | Abnormal migration | GROUP II |
II.A : Heterotopia II.B : Lissencephalies II.C : Subcortical heterotopia sublobar dysplasia II.D : Cobblestone malformations |
FLNA, RELN LIS1, TUB1A, TUBB2B, TUBB3, CDK5, DYNC1H1, WDR62, RELN DCX, LIS1, NDEL1, TUBA1, TUBB2, ACTG1, ACTB,TUBG1, KIF2A, DYNC1H1 GPR56, FKTN |
Heterogenous origins |
Abnormal postmigrational development |
GROUP III |
III.A:
Polymicrogyria Schizencephaly III.C : Focal cortical dysplasias III.D : Postmigrational microcephaly |
TBR2, PAX6, NDE1,
EMX2 PTEN CASK, FOXG1, TCF4 |