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Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series

Neurologic disorders caused by mutations in the ATP1A3 gene were originally reported as three distinct rare clinical syndromes: Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Opticus atrophy and Sensorineural hearing lo...

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Detalles Bibliográficos
Autores principales:	De Vrieze, Jelena, van de Laar, Ingrid M.B.H., de Rijk-van Andel, Johanneke F., Kamsteeg, Erik-Jan, Kotsopoulos, Irene A.W., de Man, Stella A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8573619/ https://www.ncbi.nlm.nih.gov/pubmed/34761051 http://dx.doi.org/10.1177/2329048X211048068

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