PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects

Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene cause a wide spectrum of neurological diseases, ranging from paroxysmal kinesigenic dyskinesia (PKD) to mental retardation and epilepsy. Previously, seven PKD-related PRRT2 heterozygous mutations were identified in the Taiwanese popu...

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Publicado en:Oncotarget
Autores principales: Liu, Yo-Tsen, Nian, Fang-Shin, Chou, Wan-Ju, Tai, Chin-Yin, Kwan, Shang-Yeong, Chen, Chien, Kuo, Pei-Wen, Lin, Po-Hsi, Chen, Chin-Yi, Huang, Chia-Wei, Lee, Yi-Chung, Soong, Bing-Wen, Tsai, Jin-Wu
Formato: Artigo
Lenguaje:Inglês
Publicado: Impact Journals LLC 2016
Materias:
Research Paper: Pathology
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5129924/
https://ncbi.nlm.nih.gov/pubmed/27172900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/oncotarget.9258
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