Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy

OBJECTIVE: To report longitudinal clinical, EEG, and MRI findings in 2 sisters carrying compound heterozygous ARV1 mutations and exhibiting a peculiar form of developmental and epileptic encephalopathy (DEE). Neuropathologic features are also described in one of the sisters. METHODS: Clinical course...

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發表在:Neurol Genet
Main Authors: Darra, Francesca, Lo Barco, Tommaso, Opri, Roberta, Parrini, Elena, Bianchini, Claudia, Fiorini, Elena, Simonati, Alessandro, Dalla Bernardina, Bernardo, Cantalupo, Gaetano, Guerrini, Renzo
格式: Artigo
語言:Inglês
出版: Wolters Kluwer 2021
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC8131096/
https://ncbi.nlm.nih.gov/pubmed/34017911
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000593
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