RARS2 mutations in a sibship with infantile spasms

Pontocerebellar hypoplasia is a group of heterogeneous neurodevelopmental disorders characterized by reduced volume of the brainstem and cerebellum. We report two male siblings who presented with early infantile clonic seizures, and then developed infantile spasms associated with prominent isolated...

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Detalles Bibliográficos
Autores principales: Ngoh, Adeline, Bras, Jose, Guerreiro, Rita, Meyer, Esther, McTague, Amy, Dawson, Eleanor, Mankad, Kshitij, Gunny, Roxana, Clayton, Peter, Mills, Philippa B., Thornton, Rachel, Lai, Ming, Forsyth, Robert, Kurian, Manju A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864753/
https://www.ncbi.nlm.nih.gov/pubmed/27061686
http://dx.doi.org/10.1111/epi.13358

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