Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies

PRRT2 pathogenic variants have been described in benign familial infantile epilepsy, episodic ataxia, paroxysmal kinesigenic dyskinesia, and hemiplegic migraines. We describe a patient with compound heterozygous variants, infantile epilepsy with status epilepticus, paroxysmal dyskinesia and episodic...

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Detalles Bibliográficos
Autores principales: El Achkar, Christelle Moufawad, Rosen Sheidley, Beth, O'Rourke, Declan, Takeoka, Masanori, Poduri, Annapurna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525261/
https://www.ncbi.nlm.nih.gov/pubmed/31193310
http://dx.doi.org/10.1016/j.ebcr.2016.12.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525261/
https://www.ncbi.nlm.nih.gov/pubmed/31193310
http://dx.doi.org/10.1016/j.ebcr.2016.12.001

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