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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...

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Detalles Bibliográficos
Autores principales: Gursoy, Semra, Ataman, Esra, Baysal, Bahar Toklu, Özyılmaz, Berk, Gençpınar, Pınar, Hız, Ayşe Semra, Yiş, Uluç, Ünalp, Aycan, Dündar, Nihal Olgaç, Ülgenalp, Ayfer, Erçal, Derya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
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