Severe infantile-onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45

Heterozygous de novo mutations in the autophagy gene, WDR45, are found in beta-propeller protein-associated neurodegeneration (BPAN). BPAN is characterized by adolescent-onset dementia and dystonia; 66% patients have seizures. We asked whether WDR45 was associated with developmental and epileptic en...

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Bibliografiske detaljer
Udgivet i:Epilepsia
Main Authors: Carvill, Gemma L., Liu, Aijie, Mandelstam, Simone, Schneider, Amy, Lacroix, Amy, Zemel, Matthew, McMahon, Jacinta M., Bello-Espinosa, Luis, Mackay, Mark, Wallace, Geoffrey, Waak, Michaela, Zhang, Jing, Yang, Xiaoling, Malone, Stephen, Zhang, Yue-Hua, Mefford, Heather C., Scheffer, Ingrid E.
Format: Artigo
Sprog:Inglês
Udgivet: 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5760358/
https://ncbi.nlm.nih.gov/pubmed/29171013
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.13957
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