المؤلفون: 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

المصدر: Stefanski , A , Pérez-Palma , E , Brünger , T , Montanucci , L , Gati , C , Klöckner , C , Johannesen , K M , Goodspeed , K , Macnee , M , Deng , A T , Aledo-Serrano , Á , Borovikov , A , Kava , M , Bouman , A M , Hajianpour , M J , Pal , D K , Engelen , M , Hagebeuk , E E O , Shinawi , M , Heidlebaugh , A R , Oetjens , K , Hoffman , T L , Striano , ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/418b110b-e546-4751-8335-4c10be7ba841Test

الإتاحة: https://doi.org/10.1093/brain/awad292Test
https://pure.eur.nl/en/publications/418b110b-e546-4751-8335-4c10be7ba841Test
https://pure.eur.nl/ws/files/122245149/SLC6A1_variant_pathogenicity_molecular_function_and_phenotype.pdfTest
http://www.scopus.com/inward/record.url?scp=85169582892&partnerID=8YFLogxKTest

المؤلفون: 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

المصدر: Stefanski , A , Pérez-Palma , E , Brünger , T , Montanucci , L , Gati , C , Klöckner , C , Johannesen , K M , Goodspeed , K , Macnee , M , Deng , A T , Aledo-Serrano , Á , Borovikov , A , Kava , M , Bouman , A M , Hajianpour , M J , Pal , D K , Engelen , M , Hagebeuk , E E O , Shinawi , M , Heidlebaugh , A R , Oetjens , K , Hoffman , T L , Striano , ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/418b110b-e546-4751-8335-4c10be7ba841Test

الإتاحة: https://doi.org/10.1093/brain/awad292Test
https://pure.eur.nl/en/publications/418b110b-e546-4751-8335-4c10be7ba841Test
https://pure.eur.nl/ws/files/122245149/SLC6A1_variant_pathogenicity_molecular_function_and_phenotype.pdfTest
http://www.scopus.com/inward/record.url?scp=85169582892&partnerID=8YFLogxKTest

المؤلفون: 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, Nabavi Nouri, Maryam, 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

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: Brain: a Journal of Neurology, awad292 (2023-08-30)

مصطلحات موضوعية: Epilepsy, SLC6A1, autism, Neurodevelopment, Human health sciences, Neurology, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Neurologie, Sciences du vivant, Génétique & processus génétiques

العلاقة: https://doi.org/10.1093/brain/awad292Test; FNR16394868 - Epileptogenesis Of Genetic Epilepsies, 2021 (01/10/2021-.) - Alexander Skupin; urn:issn:1460-2156; https://orbilu.uni.lu/handle/10993/55860Test; info:hdl:10993/55860; https://orbilu.uni.lu/bitstream/10993/55860/1/Stefanski2023.Brain.accepted.pdfTest; scopus-id:2-s2.0-85169582892; info:pmid:37647852

الإتاحة: https://doi.org/10.1093/brain/awad292Test
https://orbilu.uni.lu/handle/10993/55860Test
https://orbilu.uni.lu/bitstream/10993/55860/1/Stefanski2023.Brain.accepted.pdfTest

المؤلفون: 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

المصدر: Stefanski , A , Pérez-Palma , E , Brünger , T , Montanucci , L , Gati , C , Klöckner , C , Johannesen , K M , Goodspeed , K , Macnee , M , Deng , A T , Aledo-Serrano , Á , Borovikov , A , Kava , M , Bouman , A M , Hajianpour , M J , Pal , D K , Engelen , M , Hagebeuk , E E O , Shinawi , M , Heidlebaugh , A R , Oetjens , K , Hoffman , T L , Striano , ....

مصطلحات موضوعية: autism, epilepsy, genetics, neurodevelopmental disorder, SLC6A1

العلاقة: https://pure.au.dk/portal/en/publications/5e9a4c35-ce47-4395-8783-f8d929c14743Test

الإتاحة: https://doi.org/10.1093/brain/awad292Test
https://pure.au.dk/portal/en/publications/5e9a4c35-ce47-4395-8783-f8d929c14743Test
http://www.scopus.com/inward/record.url?scp=85169582892&partnerID=8YFLogxKTest

المؤلفون: 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

المصدر: Stefanski , A , Pérez-Palma , E , Brünger , T , Montanucci , L , Gati , C , Klöckner , C , Johannesen , K M , Goodspeed , K , Macnee , M , Deng , A T , Aledo-Serrano , Á , Borovikov , A , Kava , M , Bouman , A M , Hajianpour , M J , Pal , D K , Engelen , M , Hagebeuk , E E O , Shinawi , M , Heidlebaugh , A R , Oetjens , K , Hoffman , T L , Striano , ....

مصطلحات موضوعية: autism, epilepsy, genetics, neurodevelopmental disorder, SLC6A1

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/f908d31a-98d0-4da9-8f0c-48dc545cc017Test

الإتاحة: https://doi.org/10.1093/brain/awad292Test
https://portal.findresearcher.sdu.dk/da/publications/f908d31a-98d0-4da9-8f0c-48dc545cc017Test
https://findresearcher.sdu.dk/ws/files/251325056/Open_Access_Version.pdfTest

المؤلفون: 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

المساهمون: Dravet Syndrome Foundation, BMBF, NIH NINDS, Chilean National Agency for Investigation and Development, FamilieSCN2A foundation 2020, German BMBF, FNR in Luxembourg

المصدر: Brain ; volume 146, issue 12, page 5198-5208 ; ISSN 0006-8950 1460-2156

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1093/brain/awad292Test
https://academic.oup.com/brain/article-pdf/146/12/5198/53962835/awad292.pdfTest

المؤلفون: 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, Ãngel, 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

المصدر: Journal Articles

مصطلحات موضوعية: autism, epilepsy, neurodevelopmental disorder, genetics, SLC6A1, Humans, GABA Plasma Membrane Transport Proteins, Genetic Association Studies, Mutation, Missense, Phenotype, Medical Specialties, Medicine and Health Sciences, Neurology

وصف الملف: application/pdf

العلاقة: https://digitalcommons.library.tmc.edu/uthmed_docs/1466Test; https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/2442/viewcontent/awad292.pdfTest

الإتاحة: https://digitalcommons.library.tmc.edu/uthmed_docs/1466Test
https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/2442/viewcontent/awad292.pdfTest