PCDH19 mutations in female patients from Southern Italy

Autor: Monica Gagliardi a, b, Grazia Annesi a, Michela Sesta c, Patrizia Tarantino a, Pasquale Conti c, Angelo Labate a, Gabriella Di Rosa d, Aldo Quattrone a, Antonio Gambardella a

Publikováno v: Seizure (Online) 24 (2015): 120. doi:10.1016/j.seizure.2014.08.010
info:cnr-pdr/source/autori:Monica Gagliardi a,b, Grazia Annesi a, Michela Sesta c, Patrizia Tarantino a, Pasquale Conti c, Angelo Labate a,b, Gabriella Di Rosa d, Aldo Quattrone a,b, Antonio Gambardella a,b/titolo:PCDH19 mutations in female patients from Southern Italy./doi:10.1016%2Fj.seizure.2014.08.010/rivista:Seizure (Online)/anno:2015/pagina_da:120/pagina_a:/intervallo_pagine:120/volume:24

PURPOSE: Mutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilepsy and mental retardation limited to females or Dravet-like syndrome. We wished to explore the causative role of PCDH19 gene (Xq22) in female patients with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::627f10cf88815f295a2fa4ba1b163e6b
https://pubmed.ncbi.nlm.nih.gov/25218114