Article
PRRT2-related disorders: further PKD and ICCA cases and review of the literature.
Journal of neurology - 1 May 2013
Becker Felicitas, Schubert Julian, Striano Pasquale, Anttonen Anna-Kaisa, Liukkonen Elina, Gaily Eija, Gerloff Christian, Müller Stephan, Heußinger Nicole, Kellinghaus Christoph, Robbiano Angela, Polvi Anne, Zittel Simone, von Oertzen Tim J, Rostasy Kevin, Schöls Ludger, Warner Tom, Münchau Alexander, Lehesjoki Anna-Elina, Zara Federico, Lerche Holger, Weber Yvonne G
Abstract excerpt
Recent studies reported mutations in the gene encoding the proline-rich transmembrane protein 2 (PRRT2) to be causative for paroxysmal kinesigenic dyskinesia (PKD), PKD combined with infantile seizures (ICCA), and benign familial infantile seizures (BFIS). PRRT2 is a presynaptic protein which seems to play an important role in exocytosis and neurotransmitter release. PKD is the most common form of paroxysmal...
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