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Case Reports
. 2024 Aug;26(4):540-543.
doi: 10.1002/epd2.20237. Epub 2024 May 11.

Soft cerebellar signs unveil RARS2-related epilepsy

Vidal Yahya  1 , Robertino Dilena  2 , Roberto Del Bo  1 , Manuela Magni  3 , Fabio Biella  3 , Sabrina Salani  3 , Francesco Fortunato  1 , Elisa Scola  4 , Alessio Di Fonzo  3 , Edoardo Monfrini  1   3
Affiliations
Free article
Case Reports

Soft cerebellar signs unveil RARS2-related epilepsy

Vidal Yahya et al. Epileptic Disord. 2024 Aug.
Free article
No abstract available

Keywords: RARS2; ataxia; cerebellum; epilepsy; intellectual disability.

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References

REFERENCES

    1. Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, et al. Deleterious mutation in the mitochondrial arginyl‐transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet. 2007;81(4):857–862.
    1. Nishri D, Goldberg‐Stern H, Noyman I, Blumkin L, Kivity S, Saitsu H, et al. RARS2 mutations cause early onset epileptic encephalopathy without ponto‐cerebellar hypoplasia. Eur J Paediatr Neurol. 2016;20(3):412–417. https://doi.org/10.1016/j.ejpn.2016.02.012
    1. Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, et al. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. J Inherit Metab Dis. 2013;36(1):43–53.
    1. Lax NZ, Alston CL, Schon K, Park SM, Krishnakumar D, He L, et al. Neuropathologic characterization of pontocerebellar hypoplasia type 6 associated with cardiomyopathy and hydrops fetalis and severe multisystem respiratory chain deficiency due to novel RARS2 mutations. J Neuropathol Exp Neurol. 2015;74(7):688–703.
    1. Ngoh A, Bras J, Guerreiro R, Meyer E, McTague A, Dawson E, et al. RARS2 mutations in a sibship with infantile spasms. Epilepsia. 2016;57(5):e97–e102.

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