Frontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report

Abstract Background Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a rare genetic disorder characterized by progressive cognitive decline and myoclonic epilepsy, caused by pathogenic variants of SERPINI1. We reported a case of genetically confirmed FENIB with de novo H338R muta...

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Váldodahkkit:	Hideo Handa, Atsuhiko Sugiyama, Tadashi Kaname, Yoko Shigemoto, Noriko Sato, Shigeki Hirano, Yuki Nakagawa, Akiyuki Uzawa, Akiyo Aotsuka, Satoshi Kuwabara
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	BMC 2024-01-01
Ráidu:	BMC Neurology
Fáttát:	Familial encephalopathy with neuroserpin inclusion bodies (FENIB) SERPINI1 Progressive myoclonic epilepsy (PME) Voxel based morphometry (VBM)
Liŋkkat:	https://doi.org/10.1186/s12883-023-03511-0
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