Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

Yap, Z. Y., Efthymiou, S., Seiffert, S., Vargas Parra, K., Lee, S., Nasca, A., Maroofian, R., Schrauwen, I., Pendziwiat, M., Jung, S., Bhoj, E., Striano, P., Mankad, K., Vona, B., Cuddapah, S., Wagner, A., Alvi, J. R., Davoudi-Dehaghani, E., Fallah, M.-S., … Yoon, W. H. (2021). Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. The American Journal of Human Genetics, 108(12), 2368–2384. https://doi.org/10.1016/j.ajhg.2021.11.003
Authors:
Zheng Yie Yap
Stephanie Efthymiou
Simone Seiffert
Karen Vargas Parra
Sukyeong Lee
Alessia Nasca
Reza Maroofian
Isabelle Schrauwen
Manuela Pendziwiat
Sunhee Jung
Elizabeth Bhoj
Pasquale Striano
Kshitij Mankad
Barbara Vona
Sanmati Cuddapah
Anja Wagner
Javeria Raza Alvi
Elham Davoudi-Dehaghani
Mohammad-Sadegh Fallah
Srinitya Gannavarapu
Costanza Lamperti
Andrea Legati
Bibi Nazia Murtaza
Muhammad Shahid Nadeem
Mujaddad Ur Rehman
Kolsoum Saeidi
Vincenzo Salpietro
Sarah von Spiczak
Abigail Sandoval
Sirous Zeinali
Massimo Zeviani
Adi Reich
Cholsoon Jang
Ingo Helbig
Tahsin Stefan Barakat
Daniele Ghezzi
Suzanne M. Leal
Yvonne Weber
Henry Houlden
Wan Hee Yoon
Affiliated Authors:
Isabelle Schrauwen
Suzanne M. Leal
Columbia Affiliation:
Subjects:
Mitochondrial Dynamics and Reactive Oxygen Species Regulation (OpenAlex Topic)
Metabolic Disorders and Biochemical Genetics (OpenAlex Topic)
Nucleotide Metabolism and Enzyme Regulation (OpenAlex Topic)
Ataxia (MeSH)
Epilepsy (MeSH)
Hearing Loss (MeSH)
Ketoglutarate Dehydrogenase Complex (MeSH)
Mutation (MeSH)
Neurodevelopmental Disorders (MeSH)
Vision Disorders (MeSH)
Author Keywords:
crispr-cas9 gene editing
dee
drosophila
ogdhl
bi-allelic
developmental and epileptic encephalopathy
exome sequencing
mitochondria
neurodevelopmental disease
α-ketoglutarate
elink
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2021.11.003
DOI:
10.1016/j.ajhg.2021.11.003
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
View Web of Science Record
View PubMed Record
View OpenAlex Record

Record Created: