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3 results on '"Tefft, Sarah"'

1. Assessing the Clinical and Treatment Landscape of Genetic Epilepsies Through 3,760 Individuals (S24.007)

Author

Xian, Julie, primary, Kaufman, Michael, additional, Ruggiero, Sarah, additional, Ramos, Mark, additional, Gonzalez, Alexander, additional, Back, Amanda, additional, Bailey-medley, Lea, additional, Cohen, Stacey, additional, Cuddapah, Vishnu, additional, Ellis, Colin, additional, Ginn, Natalie, additional, Lewin, Naomi, additional, Lusk, Laina, additional, Marsh, Eric, additional, Massey, Shavonne, additional, Ortiz-Gonzalez, Xilma, additional, Mcdonnell, Pamela, additional, Sullivan, Katie Rose, additional, Taub, Katherine, additional, Tefft, Sarah, additional, Helbig, Katherine, additional, Goldberg, Ethan, additional, Helbig, Ingo, additional, and Fitzgerald, Mark, additional

Published
2024
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2. A quality improvement initiative to improve folic acid supplementation counseling for adolescent females with epilepsy

Author

Molisani, Sara E., primary, Parikh, Darshana, additional, DiGiovine, Marissa, additional, Dlugos, Dennis, additional, Fitzgerald, Mark P., additional, Fried, Lawrence, additional, Helbig, Ingo, additional, Kessler, Sudha Kilaru, additional, McDonnell, Pamela Pojomovsky, additional, Melamed, Susan, additional, Prelack, Marisa S., additional, Sharif, Uzma, additional, Tefft, Sarah, additional, Tencer, Jaclyn, additional, Witzman, Stephanie, additional, Shaw, Kathy, additional, and Abend, Nicholas S., additional

Published
2023
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3. Expanding the clinical phenotype and variant spectrum associated with RFX7.

Author

Sisroe T, Santos AD, Rippert AL, Gray C, Skraban CM, Nelson B, Tefft S, Helbig I, Li D, Bhoj EJ, and Sobering AK

Abstract

RFX7 encodes a transcription factor that is ubiquitously expressed and important for neural development. Haploinsufficiency of RFX7 is associated with intellectual disability, developmental delay, and diverse malformations of brain structures. Currently, there are only 16 clinically described individuals who have variants in RFX7. A recognizable pattern of malformation associated with mutation in RFX7 has not yet been uncovered. Here we describe the phenotypic presentation of two additional individuals who have novel de novo variants in RFX7. One of the individuals we describe is from an under-represented Afro-Caribbean population., (© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Published
2024
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