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Article

Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations.

Epilepsy research - 1 Dec 2015

Sangu Noriko, Shimojima Keiko, Akihisa Okumura, Ando Tomohiro, Yamamoto Toshiyuki

Abstract excerpt

Mutations in the proline-rich transmembrane protein 2 gene (PRRT2) are known to cause clinical symptoms of paroxysmal kinesigenic dyskinesia (PKD), benign partial epilepsy in infancy (BPEI), and infantile convulsions with choreoathetosis (ICCA) syndrome; however, not all patients with BPEI have PRRT2 mutations, and the genetic backgrounds for such patients are still unknown. To characterize BPEI patients without...

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Identifiers

PMID: 26561923
DOI: 10.1016/j.eplepsyres.2015.09.010

Genes

PRRT2

Variants

Provenance

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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