BRAT1 Mutation Retrospective Diagnosis: A Case Report

Biallelic mutations in the BRAT1 gene have been reported in cases with Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL), since 2012. Clinical features include progressive encephalopathy, dysmorphic features, microcephaly, hypertonia, developmental delay, refractory epilepsy, episodic...

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Detalles Bibliográficos
Autores principales: Vercellino, Fabiana, Valerio, Massimo, Dusio, Maria Pia, Spano, Alice, D'Alfonso, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10065748/
https://www.ncbi.nlm.nih.gov/pubmed/37009381
http://dx.doi.org/10.7759/cureus.35655

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10065748/
https://www.ncbi.nlm.nih.gov/pubmed/37009381
http://dx.doi.org/10.7759/cureus.35655

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