Aixa Gonzalez-Garcia
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Biography and Research Information
OverviewAI-generated summary
Aixa Gonzalez-Garcia's research focuses on novel genetic variants and their clinical presentations. Her recent work investigates a nonsense variant in the SPTBN1 gene, which manifested as apparent autoimmune encephalitis in a patient with new-onset refractory seizures. This case serves as a diagnostic lesson, highlighting the importance of considering genetic factors in complex neurological presentations.
Metrics
- Publications: 1
Selected Publications
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Novel SPTBN1 Nonsense Variant Presenting as Apparent Autoimmune Encephalitis: A Diagnostic Lesson in New-Onset Refractory Seizures (2026)
Collaboration Network
Top Collaborators
- Novel SPTBN1 Nonsense Variant Presenting as Apparent Autoimmune Encephalitis: A Diagnostic Lesson in New-Onset Refractory Seizures
- Novel SPTBN1 Nonsense Variant Presenting as Apparent Autoimmune Encephalitis: A Diagnostic Lesson in New-Onset Refractory Seizures
- Novel SPTBN1 Nonsense Variant Presenting as Apparent Autoimmune Encephalitis: A Diagnostic Lesson in New-Onset Refractory Seizures
- Novel SPTBN1 Nonsense Variant Presenting as Apparent Autoimmune Encephalitis: A Diagnostic Lesson in New-Onset Refractory Seizures
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