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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Detalhes bibliográficos
Publicado no:Epilepsia
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4864753/
https://ncbi.nlm.nih.gov/pubmed/27061686
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.13358
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