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An Indian Child with CONDSIAS Due to a Novel Variant in Gene

Overview
Journal Ann Indian Acad Neurol
Specialty Neurology
Date 2023 Mar 13
PMID 36911439
Authors
Shruti Bajaj
Poornima Shah
Amit Shah
Phani N Setty
Venu Seenappa
Divyata Hingwala
Affiliations
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References
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Ozturk G, Ayaz A, Topcu Y, Akyuz G, Unver O, Akbeyaz I . Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) Presenting with Torticollis Attacks: Phenotypic Variability of the Same Mutation in Two Turkish Patients. Ann Indian Acad Neurol. 2022; 25(2):292-294. PMC: 9175411. DOI: 10.4103/aian.aian_314_21. View
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Ghosh S, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V . Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2018; 103(3):431-439. PMC: 6128219. DOI: 10.1016/j.ajhg.2018.07.010. View
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