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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Détails bibliographiques
Publié dans:Neurology
Auteurs principaux: Thomas, Rhys H., Zhang, Lin Mei, Carvill, Gemma L., Archer, John S., Heavin, Sinéad B., Mandelstam, Simone A., Craiu, Dana, Berkovic, Samuel F., Gill, Deepak S., Mefford, Heather C., Scheffer, Ingrid E.
Format: Artigo
Langue:Inglês
Publié: Lippincott Williams & Wilkins 2015
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Article
Accès en ligne: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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