Search Results - "Oetjens, Kathryn"

The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders by Johannesen, Katrine M., Nielsen, Jimmi, Sabers, Anne, Isidor, Bertrand, Kattentidt-Mouravieva, Anja A., Zieglgänsberger, Dominik, Heidlebaugh, Alexis R., Oetjens, Kathryn F., Vidal, Anna Abuli, Christensen, Jakob, Tiller, Jacob, Freed, Amber N., Møller, Rikke S., Rubboli, Guido

“…Introduction: SLC6A1 is one of the most common monogenic causes of epilepsy and is a well-established cause of neurodevelopmental disorders…”
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Heterozygous variants in SPTBN1 cause intellectual disability and autism by Rosenfeld, Jill A., Xiao, Rui, Bekheirnia, Mir Reza, Kanani, Farah, Parker, Michael J., Koenig, Mary K., Haeringen, Arie, Ruivenkamp, Claudia, Rosmaninho‐Salgado, Joana, Almeida, Pedro M., Sá, Joaquim, Pinto Basto, Jorge, Palen, Emily, Oetjens, Kathryn F., Burrage, Lindsay C., Xia, Fan, Liu, Pengfei, Eng, Christine M., Yang, Yaping, Posey, Jennifer E., Lee, Brendan H.

“…Spectrins are common components of cytoskeletons, binding to cytoskeletal elements and the plasma membrane, allowing proper localization of essential membrane…”
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SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis by Stefanski, Arthur, Pérez-Palma, Eduardo, Brünger, Tobias, Montanucci, Ludovica, Gati, Cornelius, Klöckner, Chiara, Johannesen, Katrine M, Goodspeed, Kimberly, Macnee, Marie, Deng, Alexander T, Aledo-Serrano, Ángel, Borovikov, Artem, Kava, Maina, Bouman, Arjan M, Hajianpour, M J, Pal, Deb K, Engelen, Marc, Hagebeuk, Eveline E O, Shinawi, Marwan, Heidlebaugh, Alexis R, Oetjens, Kathryn, Hoffman, Trevor L, Striano, Pasquale, Freed, Amanda S, Futtrup, Line, Balslev, Thomas, Abulí, Anna, Danvoye, Leslie, Lederer, Damien, Balci, Tugce, Nouri, Maryam Nabavi, Butler, Elizabeth, Drewes, Sarah, van Engelen, Kalene, Howell, Katherine B, Khoury, Jean, May, Patrick, Trinidad, Marena, Froelich, Steven, Lemke, Johannes R, Tiller, Jacob, Freed, Amber N, Kang, Jing-Qiong, Wuster, Arthur, Møller, Rikke S, Lal, Dennis

“…Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by altering the protein function. Thus, systematically curated clinically…”
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