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Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome
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 dr...
Tallennettuna:
| Julkaisussa: | Mol Syndromol |
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| Päätekijät: | , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
S. Karger AG
2015
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4521075/ https://ncbi.nlm.nih.gov/pubmed/26279655 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000430429 |
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