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Article

Female-specific synaptic dysfunction and cognitive impairment in a mouse model of PCDH19 disorder.

Science (New York, N.Y.) - 16 Apr 2021

Hoshina Naosuke, Johnson-Venkatesh Erin M, Hoshina Miyuki, Umemori Hisashi

Abstract excerpt

Protocadherin-19 (PCDH19) mutations cause early-onset seizures and cognitive impairment. The PCDH19 gene is on the X-chromosome. Unlike most X-linked disorders, PCDH19 mutations affect heterozygous females (PCDH19HET♀ ) but not hemizygous males (PCDH19HEMI♂ ); however, the reason why remains to be elucidated. We demonstrate that PCDH19, a cell-adhesion molecule, is enriched at hippocampal mossy fiber synapses....

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Identifiers

PMID: 33859005
DOI: 10.1126/science.aaz3893
PMCID: PMC9873198

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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