PRRT2 mutations: exploring the phenotypical boundaries.

doi:10.1136/jnnp-2013-305122

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Article

PRRT2 mutations: exploring the phenotypical boundaries.

Journal of neurology, neurosurgery, and psychiatry - 1 Apr 2014

Djémié Tania, Weckhuysen Sarah, Holmgren Philip, Hardies Katia, Van Dyck Tine, Hendrickx Rik, Schoonjans An-Sofie, Van Paesschen Wim, Jansen Anna C, De Meirleir Linda, Selim Laila Abdel Moteleb, Girgis Marian Y, Buyse Gunnar, Lagae Lieven, Smets Katrien, Smouts Iris, Claeys Kristl G, Van den Bergh Vic, Grisar Thierry, Blatt Ilan, Shorer Zamir, Roelens Filip, Afawi Zaid, Helbig Ingo, Ceulemans Berten, De Jonghe Peter, Suls Arvid

Abstract excerpt

BACKGROUND: Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene have been identified in patients with benign (familial) infantile convulsions (B(F)IC), infantile convulsions with choreoathetosis (ICCA) and paroxysmal dyskinesias (PDs). However it remains unknown whether PRRT2 mutations are causal in other epilepsy syndromes. After we discovered a PRRT2 mutation in a large family with ICCA...

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PMID: 24101679
DOI: 10.1136/jnnp-2013-305122

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PRRT2

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PRRT2 mutations: exploring the phenotypical boundaries.PMID 24101679Read ↗

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