Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
Am J Hum Genet
.
2018 Nov 1;103(5):826.
doi: 10.1016/j.ajhg.2018.10.002.
Authors
Shereen G Ghosh
,
Kerstin Becker
,
He Huang
,
Tracy Dixon-Salazar
,
Guoliang Chai
,
Vincenzo Salpietro
,
Lihadh Al-Gazali
,
Quinten Waisfisz
,
Haicui Wang
,
Keith K Vaux
,
Valentina Stanley
,
Andreea Manole
,
Ugur Akpulat
,
Marjan M Weiss
,
Stephanie Efthymiou
,
Michael G Hanna
,
Carlo Minetti
,
Pasquale Striano
,
Livia Pisciotta
,
Elisa De Grandis
,
Janine Altmüller
,
Peter Nürnberg
,
Holger Thiele
,
Uluc Yis
,
Tuncay Derya Okur
,
Ayse Ipek Polat
,
Nafise Amiri
,
Mohammad Doosti
,
Ehsan Ghayoor Karimani
,
Mehran B Toosi
,
Gabriel Haddad
,
Mert Karakaya
,
Brunhilde Wirth
,
Johanna M van Hagen
,
Nicole I Wolf
,
Reza Maroofian
,
Henry Houlden
,
Sebahattin Cirak
,
Joseph G Gleeson
PMID:
30388405
PMCID:
PMC6218605
DOI:
10.1016/j.ajhg.2018.10.002
No abstract available
Publication types
Published Erratum
Grants and funding
MR/K000608/1/MRC_/Medical Research Council/United Kingdom
S10 OD018521/OD/NIH HHS/United States
S10 OD030363/OD/NIH HHS/United States
F31 HD095602/HD/NICHD NIH HHS/United States
G0601943/MRC_/Medical Research Council/United Kingdom