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Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy

Early onset epileptic encephalopathy (EOEE) has been used to encompass Ohtahara syndrome (early infantile epileptic encephalopathy [EIEE]), early myoclonic epilepsy, and many others. Multiple genes have been established to cause epileptic encephalopathy in the immature brain, and next‐generation seq...

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Détails bibliographiques
Publié dans:Epilepsia Open
Auteurs principaux: Alsahli, Saud, Al‐Twaijri, Waleed, Al Mutairi, Fuad
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2018
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6276780/
https://ncbi.nlm.nih.gov/pubmed/30525121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/epi4.12263
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