PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

OBJECTIVE: The proline-rich transmembrane protein (PRRT2) gene was recently identified using exome sequencing as the cause of autosomal dominant paroxysmal kinesigenic dyskinesia (PKD) with or without infantile convulsions (IC) (PKD/IC syndrome). Episodic neurologic disorders, such as epilepsy, migr...

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Autors principals: Gardiner, Alice R., Bhatia, Kailash P., Stamelou, Maria, Dale, Russell C., Kurian, Manju A., Schneider, Susanne A., Wali, G.M., Counihan, Tim, Schapira, Anthony H., Spacey, Sian D., Valente, Enza-Maria, Silveira-Moriyama, Laura, Teive, Hélio A.G., Raskin, Salmo, Sander, Josemir W., Lees, Andrew, Warner, Tom, Kullmann, Dimitri M., Wood, Nicholas W., Hanna, Michael, Houlden, Henry
Format: Artigo
Idioma:Inglês
Publicat: Lippincott Williams & Wilkins 2012
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3511930/
https://ncbi.nlm.nih.gov/pubmed/23077024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182752c5a
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