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A PIK3R2 Mutation in Familial Temporal Lobe Epilepsy as a Possible Pathogenic Variant
Temporal lobe epilepsy (TLE), the most common form of medically refractory focal epilepsy in adults, often requires surgery to alleviate seizures. By using next-generation sequencing, we identified a PIK3R2 mutation (NM_005027.4: c.265C > T; NP_005018.2: p.Arg89Cys) in a family with mesial tempor...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8141861/ https://www.ncbi.nlm.nih.gov/pubmed/34040629 http://dx.doi.org/10.3389/fgene.2021.596709 |