Evaluating Dysfunction in Fever-Induced Paroxysmal Weakness and Encephalopathy

Heterozygous variants in the ATP1A3 gene are linked to well-known neurological phenotypes. There has been growing evidence for a separate phenotype associated with variants in residue Arg756—fever-induced paroxysmal weakness and encephalopathy (FIPWE) or relapsing encephalopathy with cerebellar atax...

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Detalles Bibliográficos
Autores principales: Sano, Fumikazu, Fukao, Toshimichi, Yagasaki, Hideaki, Kanemura, Hideaki, Inukai, Takeshi, Kaga, Yoshimi, Nakane, Takaya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136819/
https://www.ncbi.nlm.nih.gov/pubmed/37189952
http://dx.doi.org/10.3390/children10040703

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136819/
https://www.ncbi.nlm.nih.gov/pubmed/37189952
http://dx.doi.org/10.3390/children10040703

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