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

Ghosh, SG; Becker, K; Huang, H; Dixon-Salazar, T; Chai, G; Salpietro, V; Al-Gazali, L; ... Gleeson, JG; + view all Ghosh, SG; Becker, K; Huang, H; Dixon-Salazar, T; Chai, G; Salpietro, V; Al-Gazali, L; Waisfisz, Q; Wang, H; Vaux, KK; Stanley, V; Manole, A; Akpulat, U; Weiss, MM; Efthymiou, S; Hanna, MG; Minetti, C; Striano, P; Pisciotta, L; De Grandis, E; Altmueller, J; Nuernberg, P; Thiele, H; Yis, U; Okur, TD; Polat, AI; Amiri, N; Doosti, M; Karimani, EG; Toosi, MB; Haddad, G; Karakaya, M; Wirth, B; van Hagen, JM; Wolf, NI; Maroofian, R; Houlden, H; Cirak, S; Gleeson, JG; - view fewer (2018) Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American Journal of Human Genetics , 103 (5) pp. 431-439. 10.1016/j.ajhg.2018.07.010 .

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