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. PubMed Article
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. PubMed Article
Plasmids from Article
| ID | Plasmid | Purpose |
|---|---|---|
| 204360 | hKCNQ5(WT).ires.GFP-pcDNA3 | Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol) |
| 204361 | hKCNQ5(WT).ires.mScarlet-pcDNA3 | Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol) |
| 204362 | hKCNQ3(WT).ires.mCherry-pcDNA3 | Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol) |
| 204363 | hBACE1(D289N).ires.mCherry-pcDNA3 | Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol) |
| 204364 | hKCNQ5(K289N).ires.GFP-pcDNA3 | Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol) |
| 204365 | hKCNQ5(P369T).ires.GFP-pcDNA3 | Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol) |
| 204366 | hKCNQ5(R443Q).ires.GFP-pcDNA3 | Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol) |
| 204367 | hKCNQ5(H576R).ires.GFP-pcDNA3 | Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol) |
| 204368 | hKCNQ5(V145G).ires.GFP-pcDNA3 | Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol) |
| 204369 | hKCNQ5(L341I).ires.GFP-pcDNA3 | Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol) |
| 204370 | hKCNQ5(P369R).ires.GFP-pcDNA3 | Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol) |
| 204371 | hKCNQ5(S448I).ires.GFP-pcDNA3 | Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol) |
| 204372 | hKCNQ5(R178X).ires.GFP-pcDNA3 | Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol) |
| 204373 | hKCNQ5(R443X).ires.GFP-pcDNA3 | Heterologous expression in mammalian cell lines or Xenopus oocyte (T7 RNA pol) |