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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| 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 |