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Article

The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation

17 Jan 2022

Abstract excerpt

Protocadherin 19 (PCDH19) gene is one of the most common genes involved in epilepsy syndromes. According to literature data PCDH19 is among the 6 genes most involved in genetic epilepsies. PCDH19 is located on chromosome Xq22.1 and is involved in neuronal connections and signal transduction. The most frequent clinical expression of PCDH19 mutation is epilepsy and mental retardation limited to female (EFMR)...

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Identifiers

PMID: 35111125
DOI: 10.3389/fneur.2021.780053

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