Homozygous c.649dupC mutation in PRRT2...

Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences

Labate, Angelo, Tarantino, Patrizia, Viri, Maurizio, Mumoli, Laura, Gagliardi, Monica, Romeo, Antonino, Zara, Federico, Annesi, Grazia, Gambardella, Antonio
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Volume:
53
Language:
english
Journal:
Epilepsia
DOI:
10.1111/epi.12009
Date:
December, 2012
File:
PDF, 119 KB
english, 2012
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