Beta-Propeller Protein-Associated Neurodegeneration (BPAN) Detected in a Child with Epileptic Spasms

This report discusses a 13-year-old girl diagnosed with beta-propeller protein-associated neurodegeneration (BPAN). BPAN is an X-linked neurodegeneration disorder associated with a mutation in the WDR45 gene. It typically presents in childhood with encephalopathy, developmental delay, and seizures....

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Detalles Bibliográficos
Autores principales: Kaleka, Guneet, McCormick, M. Eileen, Krishnan, Anant
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2019
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6795347/
https://www.ncbi.nlm.nih.gov/pubmed/31632858
http://dx.doi.org/10.7759/cureus.5404

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6795347/
https://www.ncbi.nlm.nih.gov/pubmed/31632858
http://dx.doi.org/10.7759/cureus.5404

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