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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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| Publicado en: | Epilepsy Behav Case Rep |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Elsevier
2017
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6525261/ https://ncbi.nlm.nih.gov/pubmed/31193310 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebcr.2016.12.001 |
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