Phenotypic heterogeneity of PCDH19 mutation-related epilepsy

Takeaway

  • The PCDH19 mutation can be inherited or occur spontaneously and the resulting epilepsy displays phenotypic heterogeneity.

Why this matters

    PCDH19 is one of the most significant genes in epilepsy; these findings increase our understanding of the wide continuum of PCDH19 mutations linked to epilepsy.