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Article

Diagnosis and follow-up of a PCDH19 epilepsy patient.

Psychiatric genetics - 1 Mar 2026

Chen Yanzhao, Xia Yaming, Chen Lipeng, Liu Zhiping, Li Bo, Zhou Keying, Yue Yongjian

Abstract excerpt

OBJECTIVE: Developmental and epileptic encephalopathy 9 (DEE9) is an X-linked genetic disorder characterized by the onset of seizures during infancy. Mutations in protocadherin 19 ( PCDH19 ) are the main cause of DEE9. Our study aims to demonstrate the diagnostic process and long-term follow-up of a female pediatric case presenting with recurrent seizures. METHODS: In the present study, a female child presented...

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Identifiers

PMID: 41195782
DOI: 10.1097/YPG.0000000000000404
PMCID: PMC12834272

Genes

PCDH19

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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