Publication: Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
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Begemann, A., Acuña, M. A., Zweier, M., Vincent, M., Steindl, K., Bachmann-Gagescu, R., Hackenberg, A., Abela, L., Plecko, B., Kroell-Seger, J., Baumer, A., Yamakawa, K., Inoue, Y., Asadollahi, R., Sticht, H., Zeilhofer, H. U., & Rauch, A. (2019). Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. Molecular Medicine, 25, 6. https://doi.org/10.1186/s10020-019-0073-6
Abstract
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Abstract
BACKGROUND Deleterious variants in the voltage-gated sodium channel type 2 (Na1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) and intellectual disability (ID) to autism spectrum disorders (ASD). Yet, the underlying mechanisms are still incompletely understood. METHODS To further elucidate the genotype-phenotype correlation of SCN2A variants we investigated the functional effects of six variants representing the pheno
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- Acuña, Mario A
- Vincent, Marie
- Hackenberg, Annette
- Abela, Lucia
- Plecko, Barbara
- Kroell-Seger, Judith
- Baumer, Alessandra
- Yamakawa, Kazuhiro
- Inoue, Yushi
- Asadollahi, Reza
- Sticht, Heinrich
- Zeilhofer, Hanns Ulrich
- Rauch, Anita
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Begemann, A., Acuña, M. A., Zweier, M., Vincent, M., Steindl, K., Bachmann-Gagescu, R., Hackenberg, A., Abela, L., Plecko, B., Kroell-Seger, J., Baumer, A., Yamakawa, K., Inoue, Y., Asadollahi, R., Sticht, H., Zeilhofer, H. U., & Rauch, A. (2019). Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. Molecular Medicine, 25, 6. https://doi.org/10.1186/s10020-019-0073-6
