Understanding Protein Protocadherin-19 (PCDH19) Syndrome: A Literature Review of the Pathophysiology-Reference-Cited by-同舟云学术

Understanding Protein Protocadherin-19 (PCDH19) Syndrome: A Literature Review of the Pathophysiology

Published:2022-06-10 Issue: Volume: Page:
ISSN:2168-8184
Container-title:Cureus
language:en
Short-container-title:

Author:

Moncayo Juan A,Ayala Ivan N,Argudo Jennifer M,Aguirre Alex S,Parwani Jashank,Pachano Ana,Ojeda Diego,Cordova Steven,Mora Maria Gracia,Tapia Christiany M,Ortiz Juan Fernando

Publisher

Cureus, Inc.

Subject

Aerospace Engineering

Reference29 articles.

1. PCDH19 interplay with GABA(A) receptors: a window to DEE9 pathogenetic mechanisms;Mazzoleni S;Neural Regen Res,2022

2. Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy;Shibata M;J Hum Genet,2021

3. Treatment of low cerebrospinal fluid 5-methyltetrahydrofolate with leucovorin improves seizure control and development in PCDH19-related epilepsy;Renaud DL;Pediatr Neurol,2021

4. X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: a novel PCDH19 variant in a Chinese family;Hung LY;Clin Chim Acta,2021

5. Pathogenic variant in the PCDH19 gene in a patient with epilepsy and cognitive disability;Venegas Silva V;Rev Chil Pediatr,2020

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1. Bayesian Rare Variant Analysis Identifies Novel Schizophrenia Putative Risk Genes;Journal of Personalized Medicine;2024-08-02

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

3. Epilepsy with PCDH19 mutation: polypharmacy as a consequence of the complexity and diversity of pathogenesis mechanisms;S.S. Korsakov Journal of Neurology and Psychiatry;2024

4. Epilepsy surgery as a treatment option for select patients with PCDH19-related epilepsy;Epilepsy & Behavior;2023-12

5. Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy;Genes;2023-03-31