A novel pathogenic <scp> <i>ATP6V1B2</i> </scp> variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype-Reference-Cited by-同舟云学术

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A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype

Published:2022-09-22 Issue:12 Volume:188 Page:3563-3566
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Veltra Danai¹^ORCID,Kosma Konstantina¹,Papavasiliou Antigoni²,Tilemis Faidon‐Nikolaos¹³,Traeger‐Synodinos Joanne¹,Sofocleous Christalena¹³^ORCID

Affiliation:

1. Laboratory of Medical Genetics, School of Medicine National & Kapodistrian University of Athens, “St. Sophia's” Children's Hospital Athens Greece

2. Department of Pediatric Neurology Iaso Children's Hospital Marousi Greece

3. Research University Institute for the Study of Genetic and Malignant Disease of Childhood “St. Sophia's” Children's Hospital Athens Greece

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62971

Reference14 articles.

1. Structure of V-ATPase from the mammalian brain

2. DOORS syndrome and a recurrent truncating ATP6V1B2 variant

3. An mRNA from human brain encodes an isoform of the B subunit of the vacuolar H(+)-ATPase.

4. VarAFT: a variant annotation and filtration system for human next generation sequencing data

5. ATP6V1B2-related epileptic encephalopathy

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1. Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model;Clinical Genetics;2024-07-29

2. The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice;Genes;2023-07-27

3. Proteomic and Bioinformatic Tools to Identify Potential Hub Proteins in the Audiogenic Seizure-Prone Hamster GASH/Sal;Diagnostics;2023-03-09

4. Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms;Expert Review of Molecular Diagnostics;2023-01-02

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