Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients
| dc.authorid | 0000-0001-6930-7148 | |
| dc.contributor.author | Öztürk, Gülten | |
| dc.contributor.author | Ayaz, Akif | |
| dc.contributor.author | Topçu, Yasemin | |
| dc.contributor.author | Akyüz, Gülcan | |
| dc.contributor.author | Ünver, Olcay | |
| dc.contributor.author | Akbeyaz, İsmail | |
| dc.contributor.author | Ekinci, Gazanfer | |
| dc.contributor.author | Türkdoğan, Dilşad | |
| dc.date.accessioned | 2022-06-17T07:24:58Z | |
| dc.date.available | 2022-06-17T07:24:58Z | |
| dc.date.issued | 2022 | |
| dc.department | İstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı | |
| dc.description.abstract | Two patients with the same genetic mutation in ADPRHL2 gene, which takes a role in DNA repair, transcription, telomer function, and apoptosis are presented.[1] Developmental delay, intellectual disability, epilepsy, cerebral?cerebellar atrophy, neurogenic changes, sensorineural hearing loss, nystagmus, and dystonic ataxia have been reported and intrafamilial phenotypic variability has been defined in the literature.[2] Paroxysmal torticollis attacks have not been reported before. | |
| dc.identifier.citation | Öztürk, G., Ayaz, A., Topçu, Y., Akyüz, G., Ünver, O., Akbeyaz, İ. ... Türkdoğan, D. (2022). Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients. Annals of Indian Academy of Neurology, 25(2), 292-294. http://doi.org/10.4103/aian.aian_314_21 | |
| dc.identifier.doi | 10.4103/aian.aian_314_21 | |
| dc.identifier.endpage | 294 | |
| dc.identifier.issn | 0972-2327 | |
| dc.identifier.issn | 1998-3549 | |
| dc.identifier.issue | 2 | |
| dc.identifier.pmid | 35693655 | |
| dc.identifier.scopus | 2-s2.0-85131336849 | |
| dc.identifier.scopusquality | Q3 | |
| dc.identifier.startpage | 292 | |
| dc.identifier.uri | http://doi.org/10.4103/aian.aian_314_21 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12511/9529 | |
| dc.identifier.volume | 25 | |
| dc.identifier.wos | 000867592900035 | en_US |
| dc.identifier.wosquality | Q4 | |
| dc.indekslendigikaynak | Web of Science | |
| dc.indekslendigikaynak | Scopus | |
| dc.indekslendigikaynak | PubMed | |
| dc.institutionauthor | Ayaz, Akif | |
| dc.institutionauthor | Topçu, Yasemin | |
| dc.language.iso | en | |
| dc.publisher | Wolters Kluwer Medknow Publications | |
| dc.relation.ispartof | Annals of Indian Academy of Neurology | en_US |
| dc.relation.publicationcategory | Diğer | |
| dc.rights | Attribution-NonCommercial-ShareAlike 4.0 International | * |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.rights.uri | https://creativecommons.org/licenses/by-nc-sa/4.0/ | * |
| dc.subject | Torticollis Attacks | |
| dc.subject | Phenotypic Variabilit | |
| dc.subject | Neurodegeneration | |
| dc.title | Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients | |
| dc.type | Letter |
