A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures

Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by recurrent attacks of dyskinetic movements without alteration of consciousness that are often triggered by the initiation of voluntary movements. Whole-exome sequencing has revealed a cluster of pathogenic varian...

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Detalles Bibliográficos
Autores principales: Lu, Jacqueline G., Bishop, Juliet, Cheyette, Sarah, Zhulin, Igor B., Guo, Su, Sobreira, Nara, Brenner, Steven E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793775/
https://www.ncbi.nlm.nih.gov/pubmed/29167286
http://dx.doi.org/10.1101/mcs.a002287

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