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. Author manuscript; available in PMC: 2017 Aug 1.
Published in final edited form as: Neurobiol Dis. 2015 Jul 13;92(Pt A):3–17. doi: 10.1016/j.nbd.2015.07.007

Table 1. Classification of cerebral malformations according to cell type origins and morphogenic defects.

Cerebral malformations have been classified into three main groups, according to their cellular origin (Barkovich et al, 2012). Each group has been further subdivided into sub-groups based on distinct morphogenic defects. The principal genes involved in each disorder are reported (Barkovich et al., 2012; Mirzaa et al., 2014). Several genes, such as LIS1, MCPH2 (WDR62), RELN, are involved in more than one morphogenic defect, due to their pleiotropic functions.

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