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Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.

Wei AD, Wakenight P, Zwingman TA, Bard AM, Sahai N, Willemsen MH, Schelhaas HJ, Stegmann APA, Verhoeven JS, de Man SA, Wessels MW, Kleefstra T, Shinde DN, Helbig KL, Basinger A, Wagner VF, Rodriguez-Buritica D, Bryant E, Millichap JJ, Millen KJ, Dobyns WB, Ramirez JM, Kalume FK
J Neurophysiol. 2022 Jul 1;128(1):40-61. doi: 10.1152/jn.00509.2021. Epub 2022 May 18. (Link opens in a new window) PubMed (Link opens in a new window) Article

Plasmids from Article

ID Plasmid Purpose
204360hKCNQ5(WT).ires.GFP-pcDNA3Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol)
204361hKCNQ5(WT).ires.mScarlet-pcDNA3Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol)
204362hKCNQ3(WT).ires.mCherry-pcDNA3Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol)
204363hBACE1(D289N).ires.mCherry-pcDNA3Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol)
204364hKCNQ5(K289N).ires.GFP-pcDNA3Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol)
204365hKCNQ5(P369T).ires.GFP-pcDNA3Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol)
204366hKCNQ5(R443Q).ires.GFP-pcDNA3Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol)
204367hKCNQ5(H576R).ires.GFP-pcDNA3Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol)
204368hKCNQ5(V145G).ires.GFP-pcDNA3Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol)
204369hKCNQ5(L341I).ires.GFP-pcDNA3Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol)
204370hKCNQ5(P369R).ires.GFP-pcDNA3Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol)
204371hKCNQ5(S448I).ires.GFP-pcDNA3Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol)
204372hKCNQ5(R178X).ires.GFP-pcDNA3Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol)
204373hKCNQ5(R443X).ires.GFP-pcDNA3Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol)

Antibodies from Article