Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences
Article first published online: 5 NOV 2012
Wiley Periodicals, Inc. © 2012 International League Against Epilepsy
Volume 53, Issue 12, pages e196–e199, December 2012
How to Cite
Labate, A., Tarantino, P., Viri, M., Mumoli, L., Gagliardi, M., Romeo, A., Zara, F., Annesi, G. and Gambardella, A. (2012), Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. Epilepsia, 53: e196–e199. doi: 10.1111/epi.12009
- Issue published online: 3 DEC 2012
- Article first published online: 5 NOV 2012
- Accepted September 5, 2012; Early View publication Xxxxxx XX, 2012
Figure S1. EEG recording of the proband IV:2.
Figure S2. A sequencing electropherogram withwild-type (A), heterozygous (B) and homozygous (C) c.649dupC(p.Arg217ProfsX8) mutation in PRRT2 gene.
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