Novel Biallelic Variant in the BRAT1 Gene Caused Nonprogressive Cerebellar Ataxia Syndrome

Recessive mutations in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome (RMFSL), a phenotype characterized by neonatal microcephaly, hypertonia, and refractory epilepsy with premature death. Recently, attenuated disease variants have been described, suggesting that a wider clinic...

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Detalles Bibliográficos
Autores principales: Qi, Yiming, Ji, Xueqi, Ding, Hongke, Liu, Ling, Zhang, Yan, Yin, Aihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8960271/
https://www.ncbi.nlm.nih.gov/pubmed/35360849
http://dx.doi.org/10.3389/fgene.2022.821587

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8960271/
https://www.ncbi.nlm.nih.gov/pubmed/35360849
http://dx.doi.org/10.3389/fgene.2022.821587

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