Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder caused by mutations in the NF1 gene on chromosome 17. This gene encodes neurofibromin, a key protein in the regulation of cell proliferation. With an estimated incidence of 1 in 3,000 live births, NF1 presents a heterogeneous cl...
Júlia Coutinho Cordeiro, M. Amaral, Gabriela Lavínia Santos Silva et al.· ANPAbstract_CBN26· 0 citations
Case Presentation: A 42-year-old man, previously healthy and fully independent, presented with a subacute 45-day history of behavioral change, memory impairment, progressive temporospatial disorientation, and loss of independence in activities of daily living. During the disease course, he developed tonic episodes invo...
Emilly Rennale Freitas de Melo, Mayara Figueiredo Araujo Nascimento, Paulo Henrique de Carvalho Batista et al.· ANPAbstract_CBN26· 0 citations
Background: Focal status epilepticus (SE) manifesting with non-motor symptoms represents a diagnostic challenge. Cognitive SE, a rare variant, presents as isolated disturbances in language, thought processes, or specific higher cortical dysfunctions. Objective: To report a series of SE cases characterized by exclusive...
Júlia Coutinho Cordeiro, Tiago de Oliveira Furlam, Clara Mendonça Carvalho et al.· ANPAbstract_CBN26· 0 citations
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