ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview-Reference-Cited by-同舟云学术

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ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview

Published:2023-11 Issue:10 Volume:45 Page:588-596
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Amore Greta,Calì Elisa^ORCID,Spanò Maria,Ceravolo Giorgia^ORCID,Mangano Giuseppe Donato,Scorrano Giovanna,Efthymiou Stephanie^ORCID,Salpietro Vincenzo,Houlden Henry,Di Rosa Gabriella

Funder

Medical Research Council

National Institute for Health and Care Research

Wellcome Trust

Seventh Framework Programme

UCLH Biomedical Research Centre

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference19 articles.

1. Eukaryotic V-ATPase: novel structural findings and functional insights;Marshansky;Biochim Biophys Acta (BBA) – Bioenerget,2014

2. Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes;Gao;Hum Genet,2022

3. ATP6V1B2-related epileptic encephalopathy;Inuzuka;Epileptic Disord,2020

4. A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability;Zhao;EBioMedicine,2019

5. Comprehensive analysis of ATP6V1s family members in renal clear cell carcinoma with prognostic values;Li;Front Oncol,2020

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