| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Wenchao Sheng, Ping Wang, Yingzi Cai, Chaojun Zhai, Hong Wang, Feiyu Zhou, Xiaoyu Liu, Leyi Wang, Dong Li, Jianbo Shu, Chunquan Ca. Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model. Clinical genetics. 2024-07-30. PMID:39075926. |
epilepsy due to potential loss of atp6v1b2 function with mechanistic insight by a drosophila vha55 model. |
2024-07-30 |
2024-08-02 |
drosophila_melanogaster |
| Danai Veltra, Konstantina Kosma, Antigoni Papavasiliou, Faidon-Nikolaos Tilemis, Joanne Traeger-Synodinos, Christalena Sofocleou. A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype. American journal of medical genetics. Part A. 2022-09-22. PMID:36135319. |
epilepsy was first linked to atp6v1b2, when the p.(glu374gln) missense variant was detected in a patient with id and seizures, but without characteristic features of ddod or zls2 syndromes. |
2022-09-22 |
2023-08-14 |
Not clear |
| Marie Shaw, Anna Winczewska-Wiktor, Magdalena Badura-Stronka, Sunita Koirala, Alison Gardner, Łukasz Kuszel, Piotr Kowal, Barbara Steinborn, Monika Starczewska, Sarah Garry, Ingrid E Scheffer, Samuel F Berkovic, Jozef Gec. EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. European journal of medical genetics. vol 63. issue 4. 2020-12-01. PMID:31655144. |
here we further uncover the role of atp61vb2 in epilepsy and report autosomal dominant inheritance of a novel missense variant in atp6v1b2 in a large polish family with relatively mild gingival and nail problems, no phalangeal hypoplasia and with generalized epilepsy. |
2020-12-01 |
2023-08-13 |
Not clear |
| Marie Shaw, Anna Winczewska-Wiktor, Magdalena Badura-Stronka, Sunita Koirala, Alison Gardner, Łukasz Kuszel, Piotr Kowal, Barbara Steinborn, Monika Starczewska, Sarah Garry, Ingrid E Scheffer, Samuel F Berkovic, Jozef Gec. EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. European journal of medical genetics. vol 63. issue 4. 2020-12-01. PMID:31655144. |
in light of our findings and review of the literature, we propose that the atp6v1b2 gene should be considered in families with autosomal dominant epilepsy both with or without intellectual disability, and that presence of subtle gingival and nail problems may be another characteristic calling card of affected individuals with atp6v1b2 mutations. |
2020-12-01 |
2023-08-13 |
Not clear |