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Article

NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy.

International journal of molecular sciences - 24 May 2024

Szalai Renata, Hadzsiev Kinga, Till Agnes, Fogarasi Andras, Bodo Timea, Buki Gergely, Banfai Zsolt, Bene Judit

Abstract excerpt

Developmental and epileptic encephalopathy-9 (DEE9) is characterized by seizure onset in infancy, mild to severe intellectual impairment, and psychiatric features and is caused by a mutation in the PCDH19 gene on chromosome Xq22. The rare, unusual X-linked type of disorder affects heterozygous females and mosaic males; transmitting males are unaffected. In our study, 165 patients with epilepsy were tested by Next...

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Identifiers

PMID: 38891919
DOI: 10.3390/ijms25115732
PMCID: PMC11171991

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy.PMID 38891919Read ↗

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