Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Author:

Ghosh Shereen G.,Becker Kerstin,Huang He,Dixon-Salazar Tracy,Chai Guoliang,Salpietro Vincenzo,Al-Gazali Lihadh,Waisfisz Quinten,Wang Haicui,Vaux Keith K.,Stanley Valentina,Manole Andreea,Akpulat Ugur,Weiss Marjan M.,Efthymiou Stephanie,Hanna Michael G.,Minetti Carlo,Striano Pasquale,Pisciotta Livia,De Grandis Elisa,Altmüller Janine,Weixler Lisa,Nürnberg Peter,Thiele Holger,Yis Uluc,Okur Tuncay Derya,Polat Ayse Ipek,Amiri Nafise,Doosti Mohammad,Karimani Ehsan Ghayoor,Toosi Mehran B.,Haddad Gabriel,Karakaya Mert,Wirth Brunhilde,van Hagen Johanna M.,Wolf Nicole I.,Maroofian Reza,Houlden Henry,Cirak Sebahattin,Gleeson Joseph G.

Funder

National Institute on Deafness and Other Communication Disorders

NIH Eunice Kennedy Shriver National Institute of Child Health and Human Development

Broad Institute

Yale Center for Mendelian Disorders

NIH

Simons Foundation Autism Research Initiative

Howard Hughes Medical Institute

Deutsche Forschungsgemeinschaft Emmy Noether Programme

Wellcome Trust

Ataxia UK

UCL/UCLH NIHR Biomedical Research Centre

Medical Research Council

EU Horizon 2020 Solve-RD

European Community’s Seventh Framework Programme

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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