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
Cognitive development in females with PCDH19 gene-related epilepsy.
Cappelletti S et al.
Epilepsy & Behavior : E&b, 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
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
Marini C et al.
Epilepsia, 2012
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.
Depienne C et al.
Human Mutation, 2012
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
Specchio N et al.
Epilepsia, 2011
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
Marini C et al.
Neurology, 2010
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