A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

Protocadherin-19 (PCDH19) pathogenic variants cause an early-onset seizure disorder called girls clustering epilepsy (GCE). GCE is an X-chromosome disorder that affects heterozygous females and mosaic males, however hemizygous (“transmitting”) males are spared. We aimed to define the neuropsychiatri...

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Detalles Bibliográficos
Autores principales: Kolc, Kristy L., Sadleir, Lynette G., Depienne, Christel, Marini, Carla, Scheffer, Ingrid E., Møller, Rikke S., Trivisano, Marina, Specchio, Nicola, Pham, Duyen, Kumar, Raman, Roberts, Rachel, Gecz, Jozef
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198503/
https://www.ncbi.nlm.nih.gov/pubmed/32366910
http://dx.doi.org/10.1038/s41398-020-0803-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198503/
https://www.ncbi.nlm.nih.gov/pubmed/32366910
http://dx.doi.org/10.1038/s41398-020-0803-0

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