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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Veröffentlicht in:Neurology
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Lippincott Williams & Wilkins 2015
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Article
Online Zugang: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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