ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
https://link.springer.com/content/pdf/10.1007/s12311-023-01606-5.pdf
Reference14 articles.
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2. Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015;10:148–61. https://doi.org/10.1016/j.celrep.2014.12.015.
3. Palmer EE, Jarrett KE, Sachdev RK, al Zahrani F, Hashem MO, Ibrahim N, et al. Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Hum Mol Genet. 2016;25:3042–54. https://doi.org/10.1093/hmg/ddw157.
4. Paucar M, Taylor AMR, Hadjivassiliou M, Fogel BL, Svenningsson P. Progressive ataxia with elevated alpha-fetoprotein: diagnostic issues and review of the literature. Tremor Other Hyperkinet Mov (N Y). 2019;10:9. https://doi.org/10.7916/tohm.v0.708.
5. Nashabat M, Al Qahtani XS, Almakdob S, Altwaijri W, Ba-Armah DM, Hundallah K, Hashem AA, et al. The landscape of early infantile epileptic encephalopathy in a consanguineous population. Seizure. 2019;69:154–72.
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