High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

Seok Kyu Kang; Carlos G. Vanoye; Sunita N. Misra; Sunita N. Misra; Dennis M. Echevarria; Jeffrey D. Calhoun; John B. O’Connor; Katarina L. Fabre; Dianalee McKnight; Laurie Demmer; Paula Goldenberg; Lauren E. Grote; Lauren E. Grote; Isabelle Thiffault; Isabelle Thiffault; Carol Saunders; Carol Saunders; Kevin A. Strauss; Ali Torkamani; Jasper van der Smagt; Koen van Gassen; Robert P. Carson; Jullianne Diaz; Eyby Leon; Joseph E. Jacher; Mark C. Hannibal; Jessica Litwin; Neil R. Friedman; Allison Schreiber; Bryan Lynch; Annapurna Poduri; Eric D. Marsh; Ethan M. Goldberg; John J. Millichap; John J. Millichap; Alfred L. George; Jennifer A. Kearney

doi:10.1101/637041

High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

Seok Kyu Kang
, Carlos G. Vanoye
, Sunita N. Misra
, Sunita N. Misra
, Dennis M. Echevarria
, Jeffrey D. Calhoun
, John B. O’Connor
, Katarina L. Fabre
, Dianalee McKnight
, Laurie Demmer
, Paula Goldenberg
, Lauren E. Grote
, Lauren E. Grote
, Isabelle Thiffault
, Isabelle Thiffault
, Carol Saunders
, Carol Saunders
, Kevin A. Strauss
, Ali Torkamani
, Jasper van der Smagt

Koen van Gassen, Robert P. Carson, Jullianne Diaz, Eyby Leon, Joseph E. Jacher, Mark C. Hannibal, Jessica Litwin, Neil R. Friedman, Allison Schreiber, Bryan Lynch, Annapurna Poduri, Eric D. Marsh, Ethan M. Goldberg, John J. Millichap, John J. Millichap, Alfred L. George, Jennifer A. Kearney

Northwestern University
Children's Memorial Hospital
GeneDx
Boston Children's Hospital
Harvard University
University of Missouri - Kansas City
Children's Mercy Hospital
Clinic for Special Children
Scripps Research Institute
Utrecht University
Vanderbilt University
Children's National Medical Center
University of Michigan
University of California, San Francisco
Cleveland Clinic
Children's University Hospital Dublin
University of Pennsylvania

Research output: Contribution to journal › Article › peer-review

Original language	American English
Journal	bioRxiv
DOIs	https://doi.org/10.1101/637041
State	Published - May 14 2019
Externally published	Yes

Disciplines

Computational Biology
Biology

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Kang, S. K., Vanoye, C. G., Misra, S. N., Misra, S. N., Echevarria, D. M., Calhoun, J. D., O’Connor, J. B., Fabre, K. L., McKnight, D., Demmer, L., Goldenberg, P., Grote, L. E., Grote, L. E., Thiffault, I., Thiffault, I., Saunders, C., Saunders, C., Strauss, K. A., Torkamani, A., ... Kearney, J. A. (2019). High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy. bioRxiv. https://doi.org/10.1101/637041

Kang, SK, Vanoye, CG, Misra, SN, Misra, SN, Echevarria, DM, Calhoun, JD, O’Connor, JB, Fabre, KL, McKnight, D, Demmer, L, Goldenberg, P, Grote, LE, Grote, LE, Thiffault, I, Thiffault, I, Saunders, C, Saunders, C, Strauss, KA, Torkamani, A, van der Smagt, J, van Gassen, K, Carson, RP, Diaz, J, Leon, E, Jacher, JE, Hannibal, MC, Litwin, J, Friedman, NR, Schreiber, A, Lynch, B, Poduri, A, Marsh, ED, Goldberg, EM, Millichap, JJ, Millichap, JJ, George, AL & Kearney, JA 2019, 'High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy', bioRxiv. https://doi.org/10.1101/637041

@article{f07fa8fa3d19493abdece27dcb8984b4,

title = "High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy",

author = "Kang, \{Seok Kyu\} and Vanoye, \{Carlos G.\} and Misra, \{Sunita N.\} and Misra, \{Sunita N.\} and Echevarria, \{Dennis M.\} and Calhoun, \{Jeffrey D.\} and O{\textquoteright}Connor, \{John B.\} and Fabre, \{Katarina L.\} and Dianalee McKnight and Laurie Demmer and Paula Goldenberg and Grote, \{Lauren E.\} and Grote, \{Lauren E.\} and Isabelle Thiffault and Isabelle Thiffault and Carol Saunders and Carol Saunders and Strauss, \{Kevin A.\} and Ali Torkamani and \{van der Smagt\}, Jasper and \{van Gassen\}, Koen and Carson, \{Robert P.\} and Jullianne Diaz and Eyby Leon and Jacher, \{Joseph E.\} and Hannibal, \{Mark C.\} and Jessica Litwin and Friedman, \{Neil R.\} and Allison Schreiber and Bryan Lynch and Annapurna Poduri and Marsh, \{Eric D.\} and Goldberg, \{Ethan M.\} and Millichap, \{John J.\} and Millichap, \{John J.\} and George, \{Alfred L.\} and Kearney, \{Jennifer A.\}",

year = "2019",

month = may,

day = "14",

doi = "10.1101/637041",

language = "American English",

journal = "bioRxiv",

issn = "2692-8205",

}

TY - JOUR

T1 - High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

AU - Kang, Seok Kyu

AU - Vanoye, Carlos G.

AU - Misra, Sunita N.

AU - Echevarria, Dennis M.

AU - Calhoun, Jeffrey D.

AU - O’Connor, John B.

AU - Fabre, Katarina L.

AU - McKnight, Dianalee

AU - Demmer, Laurie

AU - Goldenberg, Paula

AU - Grote, Lauren E.

AU - Thiffault, Isabelle

AU - Saunders, Carol

AU - Strauss, Kevin A.

AU - Torkamani, Ali

AU - van der Smagt, Jasper

AU - van Gassen, Koen

AU - Carson, Robert P.

AU - Diaz, Jullianne

AU - Leon, Eyby

AU - Jacher, Joseph E.

AU - Hannibal, Mark C.

AU - Litwin, Jessica

AU - Friedman, Neil R.

AU - Schreiber, Allison

AU - Lynch, Bryan

AU - Poduri, Annapurna

AU - Marsh, Eric D.

AU - Goldberg, Ethan M.

AU - Millichap, John J.

AU - George, Alfred L.

AU - Kearney, Jennifer A.

PY - 2019/5/14

Y1 - 2019/5/14

UR - https://biorxiv.org/content/biorxiv/early/2019/05/14/637041.full-text.pdf

U2 - 10.1101/637041

DO - 10.1101/637041

M3 - Article

SN - 2692-8205

JO - bioRxiv

JF - bioRxiv

ER -

High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy

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