PCDH19 is a cell adhesion molecule belonging to the protocadherin subgroup within the cadherin superfamily. It is predominantly expressed in the nervous system. Heterozygous loss-of-function variants in the human X-linked gene PCDH19 lead to early infantile epileptic encephalopathy associated with varying degrees of intellectual disability and autistic features. PCDH19-related epilepsy shows an atypical pattern of inheritance, where heterozygous females
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