X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: A novel PCDH19 variant in a Chinese family-Reference-Cited by-同舟云学术

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X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: A novel PCDH19 variant in a Chinese family

Published:2021-10 Issue: Volume:521 Page:285-288
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Hung Ling-Yin,Subramaniam Shreenidhi Ranganatha,Tong Tsz-Yan Tammy,Chan Wing-Ki,Yau Eric Kin-Cheong,Ching Chor-Kwan

Funder

Wellcome Trust

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference17 articles.

1. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles dravet syndrome but mainly affects females;Depienne;PLoS Genet.,2009

2. PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review;Samanta;Pediatr. Neurol.,2020

3. PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder;Depienne;Hum. Mutat.,2012

4. Abou Tayoun, A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern;Niazi;Hum. Mutat.,2019

5. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources;Firth;Am. J. Hum. Genet.,2009

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

2. PCDH19-clustering epilepsy, pathophysiology and clinical significance;Epilepsy & Behavior;2024-05

3. 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

4. Variable clinic-EEG trajectories in male patients with <i>PCDH19</i> clustering epilepsy;Epilepsy and paroxysmal conditions;2023-09-27

5. A novel F8 variant in a Chinese hemophilia A family and involvement of X-chromosome inactivation: A case report;Medicine;2023-05-05

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