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Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy

Kovacevic, J (author)
Maroteaux, G (author)
Schut, D (author)
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Loos, M (author)
Dubey, M (author)
Pitsch, J (author)
Remmelink, E (author)
Koopmans, B (author)
Crowley, J (author)
Karolinska Institutet
Cornelisse, LN (author)
Sullivan, PF (author)
Karolinska Institutet
Schoch, S (author)
Toonen, RF (author)
Stiedl, O (author)
Verhage, M (author)
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 (creator_code:org_t)
2018-03-12
2018
English.
In: Brain : a journal of neurology. - : Oxford University Press (OUP). - 1460-2156. ; 141:5, s. 1350-1374
  • Journal article (peer-reviewed)
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