Title: PRRT2 mutations: exploring the phenotypical boundaries
Authors: 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
Van den Bergh, Vic
Grisar, Thierry
Blatt, Ilan
Shorer, Zamir
Roelens, Filip
Afawi, Zaid
Helbig, Ingo
Ceulemans, Berten
De Jonghe, Peter
Suls, Arvid #
Issue Date: Apr-2014
Publisher: British Medical Association
Series Title: Journal of Neurology, Neurosurgery and Psychiatry vol:85 issue:4 pages:462-5
Article number: 10.1136/jnnp-2013-305122
Abstract: 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 containing one individual with febrile seizures (FS) and one individual with West syndrome, we analysed PRRT2 in a heterogeneous cohort of patients with different types of infantile epilepsy.
ISSN: 0022-3050
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Muscle Diseases and Neuropathies
Brain & Metabolism Section (-)
× corresponding author
# (joint) last author

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