PCDH19 -related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference20 articles.
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3. Male patients affected by mosaic PCDH19 mutations: five new cases;de Lange;Neurogenetics,2017
4. PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder;Depienne;Hum. Mutat.,2012
5. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females;Depienne;PLoS Genet.,2009
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