American Epilepsy Society (AES)
77^th Annual Meeting in Orlando, Fla. (Dec. 1-5, 2023)

• Voltage clamp and genetic variant pathogenicity: Epilepsy sodium channel variant curation expert panel consensus.
  

  Cohen S, Smith L, Parthasarathy S, Bonkowski E, Hong W, Wiltrout K, et al.

American Epilepsy Society (AES)
75^th Annual Meeting in Chicago, Ill. (Dec. 3-7, 2021)

• KCNQ2 G256W, a "moderate severity" developmental encephalopathy allele, modeled in silico, in vitro, and in knockin mice.
  

  Abreo T, Ji Z, Xu M, Dunbar C, Chavez A, Johnson J, et al.

American Academy of Neurology (AAN)
Virtual 2021 Annual Meeting (April 17-22, 2021)

• The RIKEE database: Genotype-phenotype patterns in KCNQ channel related disease, based on 784 individuals and pedigrees.
  

  Cooper E, Joshi N, Millichap J, Tsuchida T, Nesbitt G, Taglialatela M, et al.

American Epilepsy Society (AES)
73^rd Annual Meeting in Baltimore, Md. (Dec. 6-10, 2019)

• KB-3061 is a potent activator of wild type KCNQ channels and restores current to KCNQ2 encephalopathy variants in vitro.
  

  Ji Z-G, Moore O, Abreo T, Dworetzky S, Picchione KE, Cooper EC

American Epilepsy Society (AES)
72^nd Annual Meeting in New Orleans, La. (Nov. 30 - Dec. 4, 2018)

• Pharmacodynamic dependence of retigabine on Kcnq2 expression in PV+ interneurons.
  

  Park S, Dunbar C, Tarkunde Y, Akbar A, Marks R, Lee M, et al.

Society for Neuroscience (SFN)
48^th Annual Meeting in San Diego, Calif. (Nov. 3-7, 2018)

• Missense epilepsy mutations in neuronal KCNQ/Kv7 channels occur at hotspots within highly conserved functional domains of Kv7.2 and Kv7.3.
  

  Zhang J, Chen C, Kim E, Procko E, Patel J, Choi R, et al.

American Epilepsy Society (AES)
71^st Annual Meeting in Washington, DC (Dec. 1-5, 2017)

• Autism with benzodiazepine-responsive electrical status epilepticus in sleep (ESES) caused by KCNQ3 gain-of-function variants.
  

  Sands TT, Miceli F, Lesca G, Beck A, Cimino M, Strong N, et al.

American Epilepsy Society (AES)
70^th Annual Meeting in Houston, Texas (Dec. 2-6, 2016)

• Functional characterization of three de novo KCNQ2 encephalopathy variants in the pore helix and responses to SF0034 and ICA-069673.
  

  Ji Z, Tran B, Li L, Xu M, Cooper E

• An informatics infrastructure for KCNQ2 encephalopathy research including a patient registry, database, curation platform, and website.
  

  Joshi N, Taglialatela M, Weckhuysen S, Nesbitt G, Cooper E

• Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
  

  Taglialatela M, Millichap J, Miceli F, De Maria M, Keator C, Joshi N, et al.

• Genotype-phenotype relationships In KCNQ2 related epilepsy and encephalopathy caused by variants in the pore region.
  

  Wang X, Li L, Xu M, Mays J, Joshi N, Cooper E

American Epilepsy Society (AES)
69^th Annual Meeting in Philadelphia, Penn. (Dec. 4-8, 2015)

• An international, curated KCNQ2 registry, database and website.
  

  Joshi N, Cooper EC, Taglialatela M, Weckhuysen S

• KCNQ2 encephalopathy: Novel single amino acid deletion variants strongly suppress currents and are responsive to SF0034.
  

  Li L, Cooper EC

• KCNQ2 p.Arg198Gln, a gain-of-function variant presenting recurrently as West syndrome without preceding neonatal seizures.
  

  Millichap J, Miceli F, Tran B, Keator C, Joshi N, Virginia Soldovieri M, et al.

• Novel clinical features of KCNQ2 encephalopathy associated with the gain-of-function variant, R201C.
  

  Mulkey SB, Ben-Zeev B, Cooper EC, Cilio M

• Pharmacological rescue of KCNQ2 channels carrying early-onset epileptic encephalopathy mutations.
  

  Soldovieri M, Ambrosino P, De Maria M, Mosca I, Miceli F, Striano P, et al.

Experimental Biology (EB)
2015 Annual Meeting in Boston, Mass. (March 28 - April 1, 2015)

• Differential Ankyrin-G binding of voltage-gated sodium and KCNQ2/3 potassium channels is mediated by an overlapping N-terminal binding site.
  

  Xu M, Cooper E

American Epilepsy Society (AES)
68^th Annual Meeting in Seattle, Wash. (Dec. 5-9, 2014)

• KCNQ2-deficiency: Clinical spectrum of epilepsy, encephalopathy, and response to ezogabine.
  

  Park K, Millichap J, Cooper E

• A KCNQ2/3 mutation causing severe epilepsy disrupts channel targeting to the axon initial segment.
  

  Tran B, Xu M, Cooper E

American Epilepsy Society (AES)
67^th Annual Meeting in Washington, DC (Dec. 6-10, 2013)

• Pore loop KCNQ2 mutations causing epileptic encephalopathy strongly suppress wild type KCNQ2 currents when co-expressed in mammalian cells.
  

  Li L, Tran B, Xu M, Millichap J, Porter B, Cooper E

• KCNQ2 targeting to the axon initial segment is disrupted in a mutant form causing severe epilepsy.
  

  Tran B, Xu M, Cooper E

• Ankyrin-G as a potential molecular mechanism linking epilepsy and comorbid mood disorder.
  

  Xu M, Cooper E

Society for Neuroscience (SFN)
43^rd Annual Meeting in San Diego, Calif. (Nov. 9-13, 2013)

• Paranodal ankyrins: Enigmatic glial anchors.
  

  Chang K-J, Zollinger DR, Susuki K, Ho TS, Cooper EC, Bennett V, et al.

• The roles of ankyrin-G in node of Ranvier formation in vivo.
  

  Ho T, Zollinger DR, Xu M, Cooper EC, Stankewich MC, Bennett V, et al.

American Epilepsy Society (AES)
66^th Annual Meeting in San Diego, Calif. (Nov. 30 - Dec. 4, 2012)

• Clustering of mutations in a North American series supports a dominant-negative mechanism of KCNQ2 encephalopathy.
  

  Cooper EC, Carmant L, Flamini R, Kendall FD, Levisohn PM, Millichap JJ, et al.

• Treatment of KCNQ2 encephalopathy with ezogabine.
  

  Millichap JJ, Levisohn PM, Tsuchida TN, Cooper EC

American Academy of Neurology (AAN)
64^th Annual Meeting in New Orleans, La. (April 21-28, 2012)

• Ion channel modifications in epilepsy.
  

  Cooper E