Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL

A subset of individuals diagnosed with cerebral palsy will have an underlying genetic diagnosis. Previously, a missense variant in GAD1 was described as a candidate mutation in a single family diagnosed with autosomal recessive spastic cerebral palsy-1 (CPSQ1; OMIM 603513). Following the ascertainme...

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Detalles Bibliográficos
Autores principales: Morgan, Neil V, Yngvadottir, Bryndis, O’Driscoll, Mary, Clark, Graeme R, Walsh, Diana, Martin, Ezequiel, Tee, Louise, Reid, Evan, Titheradge, Hannah L, Maher, Eamonn R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7892364/
https://www.ncbi.nlm.nih.gov/pubmed/33634263
http://dx.doi.org/10.1093/braincomms/fcab002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7892364/
https://www.ncbi.nlm.nih.gov/pubmed/33634263
http://dx.doi.org/10.1093/braincomms/fcab002

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