Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

Migration of post-mitotic neurons from the ventricular zone to the cortical plate during
embryogenesis comprises one of the most critical stages in brain development. Deficiency of …

The thoroughly updated Fourth Edition of this acclaimed reference describes and illustrates
the full range of pediatric disorders diagnosable by modern neuroimaging. This edition …

Complex cortical malformations associated with mutations in tubulin genes: TUBA1A,
TUBA8, TUBB2B, TUBB3, TUBB5 and TUBG1 commonly referred to as tubulinopathies, are …

The genetic causes of malformations of cortical development (MCD) remain largely
unknown. Here we report the discovery of multiple pathogenic missense mutations in …

Male embryonic mice with mutations in the X-linked aristaless-related homeobox gene (Arx)
developed with small brains due to suppressed proliferation and regional deficiencies in the …

DYX2 on 6p22 is the most replicated reading disability (RD) locus. By saturating a
previously identified peak of association with single nucleotide polymorphism markers, we …

The many recent discoveries concerning the molecular biologic bases of malformations of
cortical development and the discovery of new such malformations have rendered previous …

Lissencephaly (“smooth brain,” LIS) is a malformation of cortical development associated
with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri …

Humans with mutations in either DCX or LIS1 display nearly identical neuronal migration
defects, known as lissencephaly. To define subcellular mechanisms, we have combined in …