Longitudinal neurodevelopmental profile of a pediatric patient with de novo SPTAN1, epilepsy, and left hippocampal sclerosis

Pathogenic variants in SPTAN1 result in abnormal neurodevelopment but limited information is available on the spectrum of neurodevelopmental profiles associated with variations in this gene. We present novel data collected at two time points over a three-year period in a nine-year-old patient with h...

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Detalles Bibliográficos
Autores principales: Luongo-Zink, C., Ammons, C., Al-Ramadhani, R., Logan, R., Ono, K.E., Bhalla, S., Kheder, A., Marcus, D.J., Drane, D.L., Bearden, D.J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9126767/
https://www.ncbi.nlm.nih.gov/pubmed/35620303
http://dx.doi.org/10.1016/j.ebr.2022.100550

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9126767/
https://www.ncbi.nlm.nih.gov/pubmed/35620303
http://dx.doi.org/10.1016/j.ebr.2022.100550

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