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CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures
OBJECTIVE: To delineate the phenotype of early childhood epileptic encephalopathy due to de novo mutations of CHD2, which encodes the chromodomain helicase DNA binding protein 2. METHODS: We analyzed the medical history, MRI, and video-EEG recordings of 9 individuals with de novo CHD2 mutations and...
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| Gepubliceerd in: | Neurology |
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| Hoofdauteurs: | , , , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Lippincott Williams & Wilkins
2015
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4351660/ https://ncbi.nlm.nih.gov/pubmed/25672921 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001305 |
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