Author

Rayana Elias Maia

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Review Open access Oct 2026

Epilepsy in rare diseases: clinical, electroencephalographic and neuroimaging findings in a retrospective observational study

Background: Epilepsy comprises a heterogeneous group of disorders with multiple etiologies, including structural and genetic causes. Advances in molecular diagnostics have expanded the identification of pathogenic variants associated with epilepsy, particularly in patients with early-onset seizures and neurodevelopment...

Drizia Rennaly Macedo Lima, Maria Clara Santana Lira, Júlia Rackel Ferreira de Menezes et al. · ANPAbstract_CBN26 · 0 citations

Open access Aug 2026

Glucose Transporter Deficiency Syndrome Type 1 (Glut1‐DS): New Insights From a Brazilian Cohort of Patients

Findings expand the phenotypic and genotypic spectrum of Glut1‐DS, highlight the high proportion of previously unreported SLC2A1 variants in the Brazilian population, and reinforce the importance of comprehensive genetic evaluation and counseling for affected families.

Lívia Maria Ferreira Sobrinho, Juliana Cristine Fontana, C. Lorea et al. · JIMD Reports · 0 citations