Diverse Clinical Phenotypes of <i>CASK</i>-Related Disorders and Multiple Functional Domains of CASK Protein

Diverse Clinical Phenotypes of <i>CASK</i>-Related Disorders and Multiple Functional Domains of CASK Protein

<i>CASK</i>-related disorders are a form of rare X-linked neurological diseases and most of the patients are females. They are characterized by several symptoms, including microcephaly with pontine and cerebellar hypoplasia (MICPCH), epilepsy, congenital nystagmus, and neurodevelopmental...

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Bibliographic Details
Main Authors: Takuma Mori, Mengyun Zhou, Katsuhiko Tabuchi
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Genes
Subjects:
microcephaly with pontine and cerebellar hypoplasia (MICPCH)
calcium/calmodulin-dependent serine protein kinase (CASK)
<i>CASK</i>-related disorders
developmental epileptic encephalopathy
X chromosome inactivation
X-linked intellectual developmental disorders with nystagmus
Online Access:https://www.mdpi.com/2073-4425/14/8/1656

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https://www.mdpi.com/2073-4425/14/8/1656

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