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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Detaylı Bibliyografya
Yayımlandı:Neurol Genet
Asıl Yazarlar: Darra, Francesca, Lo Barco, Tommaso, Opri, Roberta, Parrini, Elena, Bianchini, Claudia, Fiorini, Elena, Simonati, Alessandro, Dalla Bernardina, Bernardo, Cantalupo, Gaetano, Guerrini, Renzo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wolters Kluwer 2021
Konular:
Article
Online Erişim: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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