PCDH19 (protocadherin-19) was first identified as a cause of epilepsy and intellectual disability in 2008 [1]. Pathogenic variants in PCDH19 are associated with a complex neurodevelopmental syndrome characterized by epilepsy with fever-related clusters, intellectual disability, autism spectrum disorder and behavioral comorbidity [2]. The phenotypic spectrum related to PCDH19 is broadening to include patients with milder phenotype [3].
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