Publication: Recurrent nonconvulsive status epilepticus in a patient with coffin-lowry syndrome
Recurrent nonconvulsive status epilepticus in a patient with coffin-lowry syndrome
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Gschwind, M., Foletti, G., Baumer, A., Bottani, A., & Novy, J. (2015). Recurrent nonconvulsive status epilepticus in a patient with coffin-lowry syndrome. Molecular Syndromology, 6(2), 91–95. https://doi.org/10.1159/000430429
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Coffin-Lowry syndrome (CLS) is a rare neurodevelopmental condition caused by heterogeneous mutations in the RPS6KA3 gene on the X chromosome, leading to severe intellectual disability and dysmorphism in men, while women are carriers and only weakly affected. CLS is well known for stimulus-induced drop episodes; however, epilepsy is not commonly reported in this condition. We report on a CLS patient presenting with recurrent episodes of nonconvulsive status epilepticus (NCSE) with generalized epileptic activity, for which investigation
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- Gschwind, Markus
- Foletti, Giovanni
- Baumer, Alessandra
- Bottani, Armand
- Novy, Jan
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Gschwind, M., Foletti, G., Baumer, A., Bottani, A., & Novy, J. (2015). Recurrent nonconvulsive status epilepticus in a patient with coffin-lowry syndrome. Molecular Syndromology, 6(2), 91–95. https://doi.org/10.1159/000430429
