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Article

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

American journal of medical genetics. Part A - 1 Dec 2022

Veltra Danai, Kosma Konstantina, Papavasiliou Antigoni, Tilemis Faidon-Nikolaos, Traeger-Synodinos Joanne, Sofocleous Christalena

Abstract excerpt

ATP6V1B2 pathogenic variants are linked with variable phenotypes, such as dominant deafness-onychodystrophy syndrome (DDOD), autosomal dominant Zimmermann-Laband syndrome type 2 (ZLS2), and some cases of DOORS (deafness, onychodystrophy, osteodystrophy, intellectual disability [ID], and seizures). Epilepsy was first linked to ATP6V1B2, when the p.(Glu374Gln) missense variant was detected in a patient with ID and...

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Identifiers

PMID: 36135319
DOI: 10.1002/ajmg.a.62971

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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