Mutations of the CASK gene are associated with X-linked mental retardation with
microcephaly and disproportionate brain stem and cerebellar hypoplasia in females. The …

Heterozygous loss of function mutations of CASK at Xp11. 4 in females cause severe
intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia …

Purpose: Ohtahara syndrome (OS) is one of the most severe and earliest forms of epilepsy.
STXBP1 and ARX mutations have been reported in patients with OS. In this study, we aimed …

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 …

The CASK gene encoding a member of the membrane-associated guanylate kinase protein
family is highly expressed in the mammalian nervous system of both adults and fetuses …

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

Here we report on a 5‐year‐old Japanese girl with developmental delay and microcephaly.
Although she had a normal karyotype, a bacterial artificial chromosome‐based array …

Background CASK is an X‐linked gene in mammals and its deletion in males is
incompatible with life. CASK heterozygous mutations in female patients associate with …

The calcium/calmodulin-dependent serine protein kinase gene (CASK) mutations are
associated with various neurological disorders; a syndrome of intellectual disability (ID) and …

Pathogenic variants in CASK, an X‐linked gene that plays a role in brain development and
synaptic function, are the cause of both microcephaly with pontine and cerebellar …