Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.

Bhat S, Rousseau J, Michaud C, Lourenço CM, Stoler JM, Louie RJ, Clarkson LK, Lichty A, Koboldt DC, Reshmi SC, Sisodiya SM, Hoytema van Konijnenburg EMM, Koop K, van Hasselt PM, Démurger F, Dubourg C, Sullivan BR, Hughes SS, Thiffault I, Tremblay ES, Accogli A, Srour M, Blunck R, Campeau PM.

Open source

DOI: 10.1016/j.ajhg.2024.02.014
Published: 2024-03-18
Container: Am J Hum Genet
Publisher: Not recorded
Open access: no

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2024.02.014,
  title = {Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.},
  author = {Bhat S and  Rousseau J and  Michaud C and  Lourenço CM and  Stoler JM and  Louie RJ and  Clarkson LK and  Lichty A and  Koboldt DC and  Reshmi SC and  Sisodiya SM and  Hoytema van Konijnenburg EMM and  Koop K and  van Hasselt PM and  Démurger F and  Dubourg C and  Sullivan BR and  Hughes SS and  Thiffault I and  Tremblay ES and  Accogli A and  Srour M and  Blunck R and  Campeau PM.},
  year = {2024},
  journal = {Am J Hum Genet},
  doi = {10.1016/j.ajhg.2024.02.014},
  url = {https://doi.org/10.1016/j.ajhg.2024.02.014}
}

RIS

TY  - JOUR
TI  - Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
AU  - Bhat S
AU  -  Rousseau J
AU  -  Michaud C
AU  -  Lourenço CM
AU  -  Stoler JM
AU  -  Louie RJ
AU  -  Clarkson LK
AU  -  Lichty A
AU  -  Koboldt DC
AU  -  Reshmi SC
AU  -  Sisodiya SM
AU  -  Hoytema van Konijnenburg EMM
AU  -  Koop K
AU  -  van Hasselt PM
AU  -  Démurger F
AU  -  Dubourg C
AU  -  Sullivan BR
AU  -  Hughes SS
AU  -  Thiffault I
AU  -  Tremblay ES
AU  -  Accogli A
AU  -  Srour M
AU  -  Blunck R
AU  -  Campeau PM.
PY  - 2024
JO  - Am J Hum Genet
DO  - 10.1016/j.ajhg.2024.02.014
UR  - https://doi.org/10.1016/j.ajhg.2024.02.014
ER  -

APA

S, B., J, R., C, M., CM, L., JM, S., RJ, L., LK, C., A, L., DC, K., SC, R., SM, S., EMM, H. V. K., K, K., PM, V. H., F, D., C, D., BR, S., SS, H., I, T., ES, T., A, A., M, S., R, B., & PM., C. (2024). Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.. Am J Hum Genet. https://doi.org/10.1016/j.ajhg.2024.02.014

Source records

europe-pmc · retrieved 2026-09-25T09:14:57.168Z
hal · retrieved 2026-09-25T09:14:57.221Z