Table 2 Comparison of brain malformations in humans and mice

From: Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

Feature

Our cohort %, (n = 6a)

Knockout miceb

Subcortical WMA

33% (2)

100%

Enlarged or dysmorphic LV

33% (2)

100%

Pachygyria

33% (2)

NA

Microcephaly

16% (1)

100%

Abnormalities of CC

16% (1)

100%

PNHs

16% (1)

30%

Hypoplastic brainstem

16% (1)

NT

Hypoplastic cerebellum

16% (1)

NT

No abnormalities

33 % (2)

0%

  1. CC corpus callosum, LV lateral ventricles, NA not applicable, NT not tested, PNH periventricular nodular heterotopia, WMA white matter abnormalities.
  2. aNumber of patients for whom MRI studies were available.
  3. bAt least ten animals per genotype were analyzed.
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