A Rare Cause of Recurrent Febrile Encephalopathy in a Child: The Expanding Spectrum of ATP1A3 Mutations

ATP1A3 mutations have been recognized in infants and children presenting with a diverse group of neurological phenotypes, including rapid-onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearin...

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Detalles Bibliográficos
Autores principales: Tahir, Saja, Chencheri, Nidheesh, Abdalla, Abdalla A, O E Babiker, Mohamed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8759976/
https://www.ncbi.nlm.nih.gov/pubmed/35047275
http://dx.doi.org/10.7759/cureus.20438

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8759976/
https://www.ncbi.nlm.nih.gov/pubmed/35047275
http://dx.doi.org/10.7759/cureus.20438

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