Publication: Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene
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Hackenberg, A., Baumer, A., Sticht, H., Schmitt, B., Kroell-Seger, J., Wille, D., Joset, P., Papuc, S., Rauch, A., & Plecko, B. (2014). Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. Neuropediatrics, 45(4), 261–264. https://doi.org/10.1055/s-0034-1372302
Abstract
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Mutations of the SCN2A gene have originally been described in association with benign familial neonatal-infantile seizures (BFNIS). Recently, single patients with more severe phenotypes and persisting epileptic encephalopathies have been recognized. We report the case of a girl with severe infantile onset epileptic encephalopathy and a de novo missense mutation in the SCN2A gene (c.4025T > C/ = ; p.L1342P/ = ), who presented with a transient choreatic movement disorder, hypersomnia, and progressive brain atrophy. Whole exome sequencin
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- Hackenberg, Annette
- Baumer, Alessandra
- Sticht, Heinrich
- Schmitt, Bernhard
- Kroell-Seger, Judith
- Wille, David
- Joset, Pascal
- Papuc, Sorina
- Rauch, Anita
- Plecko, Barbara
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Hackenberg, A., Baumer, A., Sticht, H., Schmitt, B., Kroell-Seger, J., Wille, D., Joset, P., Papuc, S., Rauch, A., & Plecko, B. (2014). Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. Neuropediatrics, 45(4), 261–264. https://doi.org/10.1055/s-0034-1372302
