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

The frequency and importance of the evaluation of the posterior fossa have increased
significantly over the past 20 years owing to advances in neuroimaging. Nowadays …

Malformations of cortical development (MCDs) compose a diverse range of disorders that
are common causes of neurodevelopmental delay and epilepsy. With improved imaging and …

Cerebellar malformations are diverse congenital anomalies frequently associated with
developmental disability. Although genetic and prenatal non-genetic causes have been …

Cerebellar hypoplasia (CH) refers to a cerebellum with a reduced volume, and is a common,
but non‐specific neuroimaging finding. The etiological spectrum of CH is wide and includes …

Background Heterozygous mutations in the CASK gene in Xp11. 4 have been shown to be
associated with a distinct brain malformation phenotype in females, including …

Background Heterozygous loss-of-function mutations in the X-linked CASK gene cause
progressive microcephaly with pontine and cerebellar hypoplasia (MICPCH) and severe …

The CASK gene (Xp11. 4) is highly expressed in the mammalian nervous system and plays
several roles in neural development and synaptic function. Loss-of-function mutations of …

Background Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases
characterized by lack of development and/or early neurodegeneration of cerebellum and …

Background Heterozygous loss of X-linked genes like CASK and MeCP2 (Rett syndrome)
causes developmental delay in girls, while in boys, loss of the only allele of these genes …