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Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation
OBJECTIVE: De novo missense mutations in the RHOBTB2 gene have been described as causative for developmental and epileptic encephalopathy. METHODS: The clinical phenotype of this disorder includes early-onset epilepsy, severe intellectual disability, postnatal microcephaly, and movement disorder. Th...
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| Pubblicato in: | Neurol Genet |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Wolters Kluwer
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7164965/ https://ncbi.nlm.nih.gov/pubmed/32337345 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000418 |
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