A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern-Reference-Cited by-同舟云学术

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A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern

Published:2019-01-10 Issue:3 Volume:40 Page:243-257
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Niazi Rojeen¹^ORCID,Fanning Elizabeth A.¹,Depienne Christel²³⁴,Sarmady Mahdi¹⁵,Abou Tayoun Ahmad N.⁶

Affiliation:

1. Division of Genomic Diagnostics; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

2. Institute of Human Genetics; University Hospital Essen; University Duisburg-Essen; Essen Germany

3. Inserm U 1127; CNRS UMR 7225; Sorbonne Universités; UPMC Univ Paris; 06 UMR S 1127; Institut du Cerveau et de la Moelle épinière; Paris France

4. IGBMC; CNRS UMR 7104/INSERM U964/Université de Strasbourg; Illkirch France

5. The University of Pennsylvania Perelman School of Medicine; Philadelphia Pennsylvania

6. Al Jalila Children's Specialty Hospital; Dubai United Arab Emirates

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23701/fullpdf

Reference78 articles.

1. Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy;Bagnall;Annals of Neurology,2016

2. The female epilepsy protein PCDH19 is a new GABAAR-binding partner that regulates GABAergic transmission as well as migration and morphological maturation of hippocampal neurons;Bassani;Human Molecular Genetics,2018

3. The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009;Bayat;Epilepsia,2015

4. Cloning and characterization of zebrafish protocadherin-17;Biswas;Development Genes and Evolution,2009

5. Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations;Breuillard;Epilepsy & Behavior,2016

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1. Dravet-like syndrome with PCDH19 mutations in Taiwan ― A multicenter study;Pediatrics & Neonatology;2024-08

2. NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy;International Journal of Molecular Sciences;2024-05-24

3. Effect of PCDH19 missense mutations on cell-to-cell proximity and neuronal development under heterotypic conditions;PNAS Nexus;2024-02-08

4. Prenatal diagnosis of developmental and epileptic encephalopathy 9 with a 10.05‐Mb microdeletion at Xq21.31q22.1 inherited from mother: A case report and literature review;Molecular Genetics & Genomic Medicine;2023-12-11

5. A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19;Molecular Syndromology;2023-12-06

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