Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome

Naeimeh Tayebi; Brian  Leon-Richardo; Kevin McCall; Elvisa  Mehinovic; Kirstin  Engelstad; Vincent Huynh; Tychele Turner; Judy Weisenberg; Liu  Thio; Paul  Hruz; R. S. Williams; Darryl De VIvo; Vincent Petit; Gabe Haller; Christina Gurnett

doi:10.1002/acn3.51767

Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome

Naeimeh Tayebi, Brian Leon-Richardo, Kevin McCall, Elvisa Mehinovic, Kirstin Engelstad, Vincent Huynh, Tychele Turner, Judy Weisenberg, Liu Thio, Paul Hruz, R. S. Williams, Darryl De VIvo, Vincent Petit, Gabe Haller, Christina Gurnett

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

Original language	English
Pages (from-to)	787-801
Number of pages	15
Journal	Annals of clinical and translational neurology
Volume	10
Issue number	5
Early online date	31 Mar 2023
DOIs	https://doi.org/10.1002/acn3.51767
Publication status	Published - May 2023

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Tayebi, N., Leon-Richardo, B., McCall, K., Mehinovic, E., Engelstad, K., Huynh, V., Turner, T., Weisenberg, J., Thio, L., Hruz, P., Williams, R. S., De VIvo, D., Petit, V., Haller, G., & Gurnett, C. (2023). Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome. Annals of clinical and translational neurology, 10(5), 787-801. https://doi.org/10.1002/acn3.51767

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title = "Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome",

author = "Naeimeh Tayebi and Brian Leon-Richardo and Kevin McCall and Elvisa Mehinovic and Kirstin Engelstad and Vincent Huynh and Tychele Turner and Judy Weisenberg and Liu Thio and Paul Hruz and Williams, {R. S.} and {De VIvo}, Darryl and Vincent Petit and Gabe Haller and Christina Gurnett",

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Tayebi, N, Leon-Richardo, B, McCall, K, Mehinovic, E, Engelstad, K, Huynh, V, Turner, T, Weisenberg, J, Thio, L, Hruz, P, Williams, RS, De VIvo, D, Petit, V, Haller, G & Gurnett, C 2023, 'Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome', Annals of clinical and translational neurology, vol. 10, no. 5, pp. 787-801. https://doi.org/10.1002/acn3.51767

TY - JOUR

T1 - Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome

AU - Tayebi, Naeimeh

AU - Leon-Richardo, Brian

AU - McCall, Kevin

AU - Mehinovic, Elvisa

AU - Engelstad, Kirstin

AU - Huynh, Vincent

AU - Turner, Tychele

AU - Weisenberg, Judy

AU - Thio, Liu

AU - Hruz, Paul

AU - Williams, R. S.

AU - De VIvo, Darryl

AU - Petit, Vincent

AU - Haller, Gabe

AU - Gurnett, Christina

PY - 2023/5

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U2 - 10.1002/acn3.51767

DO - 10.1002/acn3.51767

M3 - Article

SN - 2328-9503

VL - 10

SP - 787

EP - 801

JO - Annals of clinical and translational neurology

JF - Annals of clinical and translational neurology

IS - 5

ER -