Open AccessStress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients
Author(s) -
Gülten Öztürk,
Akif Ayaz,
Yasemin Topçu,
Gülcan Akyuz,
Olcay Ünver,
IsmailHakk Akbeyaz,
Gazanfer Ekinci,
Dilşad Türkdoğan
Publication year - 2022
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/aian.aian_314_21
Subject(s) - medicine , ataxia , torticollis , pediatrics , neurodegeneration , dystonia , turkish , phenotype , neuroscience , physical medicine and rehabilitation , audiology , genetics , psychiatry , psychology , surgery , biology , linguistics , philosophy , disease , gene