Presynaptic dysfunction in CASK-related neurodevelopmental disorders
نویسندگان
چکیده
منابع مشابه
Phenotypic and molecular insights into CASK-related disorders in males
BACKGROUND Heterozygous loss-of-function mutations in the X-linked CASK gene cause progressive microcephaly with pontine and cerebellar hypoplasia (MICPCH) and severe intellectual disability (ID) in females. Different CASK mutations have also been reported in males. The associated phenotypes range from nonsyndromic ID to Ohtahara syndrome with cerebellar hypoplasia. However, the phenotypic spec...
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ژورنال
عنوان ژورنال: Translational Psychiatry
سال: 2020
ISSN: 2158-3188
DOI: 10.1038/s41398-020-00994-0