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Identification of PCDH19 Gene Mutations/Deletions in Patients with Early Onset Epilepsy
BACKGROUND AND AIMS: PCDH19 gene, which encodes protocadherin 19, is associated with epilepsy and intellectual disability, mainly in affected females. The clinical manifestations are heterogeneous and the main features include early onset seizure, generalized or focal seizures sensitive to fever, an...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7061497/ https://www.ncbi.nlm.nih.gov/pubmed/32189863 http://dx.doi.org/10.4103/aian.AIAN_465_19 |