Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) is a rare autosomal recessive epilepsy-ataxia syndrome initiating with sudden severe seizures. Disease progress was variable but frequently associated with periods of increased stress, such as infections. It has been reported that biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, cause CONDSIAS.
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, Altmuller J, Nurnberg 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
タイトル
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
