EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities-Reference-Cited by-同舟云学术

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities

Published:2020-04 Issue:4 Volume:63 Page:103799
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Shaw Marie,Winczewska-Wiktor Anna,Badura-Stronka Magdalena,Koirala Sunita,Gardner Alison,Kuszel Łukasz,Kowal Piotr,Steinborn Barbara,Starczewska Monika,Garry Sarah,Scheffer Ingrid E.,Berkovic Samuel F.,Gecz Jozef

Funder

National Health and Medical Research Council

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference23 articles.

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3. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome;Campeau;Am J Med Genet C Semin Med Genet,2014

4. The genetic basis of DOORS syndrome: an exome-sequencing study;Campeau;Lancet Neurol.,2014

5. Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review;Castori;Eur. J. Med. Genet.,2013

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1. V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities;Cells;2024-08-28

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

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

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