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Article

[Clinical and genetic characteristics of epilepsy caused by mutations in the PCDH19 gene (OMIM: 300088)].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2020

Dadali E L, Mishina I A, Borovikov A O, Sharkov A A, Kanivets I V

Abstract excerpt

AIM: To analyze clinical and genetic characteristics of PCDH19-associated epilepsy in a sample of patients from the Russian population. MATERIAL AND METHODS: The sample of patients with early epileptic encephalopathies included 16 people aged 10 month to 30 years. All patients underwent neurological examination according to standard methods, exome sequencing and EEG monitoring. RESULTS: Most of the identified...

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PMID: 32105270
DOI: 10.17116/jnevro202012001155

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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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