Behavioral and neuropsychological profile of a male patient with mosaic PCDH19 mutation

Mutations in the protocadherin 19 gene (PCDH19) are associated with a female-restricted form of epilepsy. As the disorder has an X-reversed inheritance pattern, men are usually healthy carriers. PCDH19 epilepsy among men due to mosaicism is rare but probably underdiagnosed. We describe the longitudi...

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Detalles Bibliográficos
Autores principales: Johannessen, Margret, Kjellsen, Ida Marie, Malt, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9293583/
https://www.ncbi.nlm.nih.gov/pubmed/35860011
http://dx.doi.org/10.1016/j.ebr.2022.100559

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9293583/
https://www.ncbi.nlm.nih.gov/pubmed/35860011
http://dx.doi.org/10.1016/j.ebr.2022.100559

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