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

Ghosh, SGBecker, KHuang, HSalazar, TDChai, GLSalpietro, VAl-Gazali, LWaisfisz, QWang, HVaux, KKStanley, VManole, AAkpulat, UWeiss, MMEfthymiou, SHanna, MGMinetti, CStriano, PPisciotta, LDe Grandis, EAltmuller, JNurnberg, PThiele, HYis, UOkur, TDPolat, AIAmiri, NDoosti, MKarimani, EGToosi, MBHaddad, GKarakaya, MWirth, Bvan Hagen, JMWolf, NIMaroofian, RHoulden, HCirak, SGleeson, JG2023-04-182023-04-182018.01.010002-9297https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=dspace_ku&SrcAuth=WosAPI&KeyUT=WOS:000443819500012&DestLinkType=FullRecord&DestApp=WOShttps://hdl.handle.net/20.500.12597/9903Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeArticle10.1016/j.ajhg.2018.07.010WOS:00044381950001243143910331537-6605