Associated Papers
Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus.
deCampo D et al.
Frontiers in Neurology, 2023
37077567 (PubMed )
Supplement: Data_Sheet_1.pdf
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.
Krygier M et al.
Frontiers in Genetics, 2023
Child Neurology: Initial Presentation of PCDH19-Related Epilepsy With New-Onset Refractory Status Epilepticus and Treatment With Anakinra.
Varughese RT et al.
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
Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy.
Cooper SR et al.
Elife, 2016
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
Protocadherin 19 mutations in girls with infantile-onset epilepsy.
Marini C et al.
Neurology, 2010
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