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Article

CHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus?

Seizure - 1 Mar 2018

Jiang Yong-Li, Yuan Fang, Yang Ying, Sun Xiao-Long, Song Lu, Jiang Wen

Abstract excerpt

PURPOSE: Paroxysmal kinesigenic dyskinesia (PKD) and epilepsy are thought to have a shared genetic etiology. PRRT2 has been identified as a causative gene of both disorders. In this study, we aim to explore the potential novel causative gene in a PRRT2-negative family with three individuals diagnosed with PKD or genetic epilepsy with febrile seizures plus (GEFS+). METHODS: Clinical data were collected from all...

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Source

Identifiers

PMID: 29454195
DOI: 10.1016/j.seizure.2018.02.005

Genes

CHRNA4
PRRT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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