The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations

The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations

Heterozygous and rare homozygous mutations in PRoline-Rich Transmembrane protein 2 (PRRT2) underlie a group of paroxysmal disorders including epilepsy, kinesigenic dyskinesia episodic ataxia and migraine. Most of the mutations lead to impaired PRRT2 expression and/or function. Recently, an important...

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Bibliographic Details
Main Authors: Caterina Michetti, Enrico Castroflorio, Ivan Marchionni, Nicola Forte, Bruno Sterlini, Francesca Binda, Floriana Fruscione, Pietro Baldelli, Flavia Valtorta, Federico Zara, Anna Corradi, Fabio Benfenati
Format: Article
Language:English
Published: Elsevier 2017-03-01
Series:Neurobiology of Disease
Subjects:
Proline-rich transmembrane protein 2
Knockout mouse
Motor paroxysms
Audiogenic seizures
Synaptic transmission
Hippocampus
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996116302972

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http://www.sciencedirect.com/science/article/pii/S0969996116302972

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