Associated Papers
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.
Shibata M et al.
Journal of Human Genetics, 2021
33262389 (PubMed )
Supplement: 10038_2020_880_MOESM4_ESM.xlsx › Supplemental_Table_2
PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
Smith L et al.
Epilepsia, 2018
Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.
Duszyc K et al.
Journal of Applied Genetics, 2015
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.
van Harssel JJ et al.
Neurogenetics, 2013
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
Depienne C et al.
Human Mutation, 2012
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.
Jamal SM et al.
American Journal of Medical Genetics. Part A, 2010
Select a paper to view details