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.
Migrating Focal Seizures and Myoclonic Status in ARV1- Related Encephalopathy / Darra, Francesca; Lo Barco, Tommaso; Opri, Roberta; Parrini, Elena; Bianchini, Claudia; Fiorini, Elena; Simonati, Alessandro; Dalla Bernardina, Bernardo; Cantalupo, Gaetano; Guerrini, Renzo. - In: NEUROLOGY. GENETICS. - ISSN 2376-7839. - ELETTRONICO. - (2021), pp. 0-0. [10.1212/NXG.0000000000000593]
Migrating Focal Seizures and Myoclonic Status in ARV1- Related Encephalopathy
Parrini, Elena;Bianchini, Claudia;Guerrini, Renzo
2021
Abstract
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.
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