Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., … Kruer, M. C. (2021). Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. The American Journal of Human Genetics, 108(10), 2006–2016. https://doi.org/10.1016/j.ajhg.2021.08.003
Authors:
Elodie M Richard
Somayeh Bakhtiari
Ashley P L Marsh
Rauan Kaiyrzhanov
Matias Wagner
Sheetal Shetty
Alex Pagnozzi
Sandra M Nordlie
Brandon S Guida
Patricia Cornejo
Helen Magee
James Liu
Bethany Y Norton
Richard I Webster
Lisa Worgan
Hakon Hakonarson
Jiankang Li
Yiran Guo
Mahim Jain
Alyssa Blesson
Lance H Rodan
Mary-Alice Abbott
Anne Comi
Julie S Cohen
Bader Alhaddad
Thomas Meitinger
Dominic Lenz
Andreas Ziegler
Urania Kotzaeridou
Theresa Brunet
Anna Chassevent
Constance Smith-Hicks
Joseph Ekstein
Tzvi Weiden
Andreas Hahn
Nazira Zharkinbekova
Peter Turnpenny
Arianna Tucci
Melissa Yelton
Rita Horvath
Serdal Gungor
Semra Hiz
Yavuz Oktay
Hanns Lochmuller
Marcella Zollino
Manuela Morleo
Giuseppe Marangi
Vincenzo Nigro
Annalaura Torella
Michele Pinelli
Simona Amenta
Ralf A Husain
Benita Grossmann
Marion Rapp
Claudia Steen
Iris Marquardt
Mona Grimmel
Ute Grasshoff
G Christoph Korenke
Marta Owczarek-Lipska
John Neidhardt
Francesca Clementina Radio
Cecilia Mancini
Dianela Judith Claps Sepulveda
Kirsty McWalter
Amber Begtrup
Amy Crunk
Maria J Guillen Sacoto
Richard Person
Rhonda E Schnur
Maria Margherita Mancardi
Florian Kreuder
Pasquale Striano
Federico Zara
Wendy K Chung
Warren A Marks
Clare L van Eyk
Dani L Webber
Mark A Corbett
Kelly Harper
Jesia G Berry
Alastair H MacLennan
Jozef Gecz
Marco Tartaglia
Vincenzo Salpietro
John Christodoulou
Jan Kaslin
Sergio Padilla-Lopez
Kaya Bilguvar
Alexander Munchau
Zubair M Ahmed
Robert B Hufnagel
Michael C Fahey
Reza Maroofian
Henry Houlden
Heinrich Sticht
Shrikant M Mane
Aboulfazl Rad
Barbara Vona
Sheng Chih Jin
Tobias B Haack
Christine Makowski
Yoel Hirsch
Saima Riazuddin
Michael C Kruer
Affiliated Authors:
Wendy K Chung
Columbia Affiliation:
Subjects:
Cerebral Palsy (MeSH)
Epilepsy (MeSH)
Genetic Predisposition to Disease (MeSH)
Genetic Variation (MeSH)
Hearing Loss (MeSH)
Intellectual Disability (MeSH)
Muscle Spasticity (MeSH)
Author Keywords:
aaa+ superfamily
atpase
spata5l1
cerebral palsy
epilepsy
intellectual disability
movement disorder
neurodevelopmental disorder
sensorineural hearing loss
elink
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2021.08.003
PMID:
34626583
DOI:
10.1016/j.ajhg.2021.08.003
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created: