Associated Papers
Multicenter retrospective study of patients with PCDH19-related epilepsy: The first Hungarian cohort.
Kovacs M et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
Clinical utility of exome sequencing in a pediatric epilepsy cohort.
Graifman JL et al.
Epilepsia, 2023
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Ding J et al.
Frontiers in Neurology, 2022
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
A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.
Kolc KL et al.
Molecular Psychiatry, 2019
29892053 (PubMed )
Supplement: 41380_2018_66_MOESM1_ESM.xlsx › Review
[A patient with an early diagnosis of PCDH19-related epilepsy].
Hoshina M et al.
No to Hattatsu = Brain and Development, 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
PCDH19 mutation in Japanese females with epilepsy.
Higurashi N et al.
Epilepsy Research, 2012
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