Article
The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations.
Neurobiology of disease - 1 Mar 2017
Michetti Caterina, Castroflorio Enrico, Marchionni Ivan, Forte Nicola, Sterlini Bruno, Binda Francesca, Fruscione Floriana, Baldelli Pietro, Valtorta Flavia, Zara Federico, Corradi Anna, Benfenati Fabio
Abstract excerpt
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 role for PRTT2 in the neurotransmitter release machinery, brain development and synapse formation has been...
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