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Article

PRRT2-related phenotypes in patients with a 16p11.2 deletion.

European journal of medical genetics - 1 Apr 2019

Vlaskamp Danique R M, Callenbach Petra M C, Rump Patrick, Giannini Lucia A A, Brilstra Eva H, Dijkhuizen Trijnie, Vos Yvonne J, van der Kevie-Kersemaekers Anne-Marie F, Knijnenburg Jeroen, de Leeuw Nicole, van Minkelen Rick, Ruivenkamp Claudia A L, Stegmann Alexander P A, Brouwer Oebele F, van Ravenswaaij-Arts Conny M A

Abstract excerpt

We studied the presence of benign infantile epilepsy (BIE), paroxysmal kinesigenic dyskinesia (PKD), and PKD with infantile convulsions (PKD/IC) in patients with a 16p11.2 deletion including PRRT2 or with a PRRT2 loss-of-function sequence variant. Index patients were recruited from seven Dutch university hospitals. The presence of BIE, PKD and PKD/IC was retrospectively evaluated using questionnaires and medical...

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Source

Identifiers

PMID: 30125676
DOI: 10.1016/j.ejmg.2018.08.002

Genes

PRRT2

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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