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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

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