SLC6A1 epileptic encephalopathy (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "SLC6A1 epileptic encephalopathy" in English language version.

refsWebsite

Global rank English rank

7nih.gov

4^th place

4doi.org

2^nd place

1rarediseases.org

5,181^st place

3,260^th place

1slc6a1connect.org

low place

1semanticscholar.org

11^th place

8^th place

1chop.edu

low place

chop.edu

Philadelphia, The Children's Hospital of (13 May 2020). "SLC6A1-Related Disorders". www.chop.edu.

doi.org

Johannesen, Katrine M.; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; de Saint Martin, Anne; Lehesjoki, Anna-Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi-Warde, Marie-Thérèse; Chelly, Jamel; Piton, Amélie; Merritt, J. Lawrence; Rodan, Lance H.; Tan, Wen-Hann; Bird, Lynne M.; Nespeca, Mark; Gleeson, Joseph G.; Yoo, Yongjin; Choi, Murim; Chae, Jong-Hee; Czapansky-Beilman, Desiree; Reichert, Sara Chadwick; Pendziwiat, Manuela; Verhoeven, Judith S.; Schelhaas, Helenius J.; Devinsky, Orrin; Christensen, Jakob; Specchio, Nicola; Trivisano, Marina; Weber, Yvonne G.; Nava, Caroline; Keren, Boris; Doummar, Diane; Schaefer, Elise; Hopkins, Sarah; Dubbs, Holly; Shaw, Jessica E.; Pisani, Laura; Myers, Candace T.; Tang, Sha; Tang, Shan; Pal, Deb K.; Millichap, John J.; Carvill, Gemma L.; Helbig, Kathrine L.; Mecarelli, Oriano; Striano, Pasquale; Helbig, Ingo; Rubboli, Guido; Mefford, Heather C.; Møller, Rikke S. (February 2018). "Defining the phenotypic spectrum of SLC6A1 mutations". Epilepsia. 59 (2): 389–402. doi:10.1111/epi.13986. PMC 7677605. PMID 33241211.
Goodspeed, Kimberly; Pérez-Palma, Eduardo; Iqbal, Sumaiya; Cooper, Dominique; Scimemi, Annalisa; Johannesen, Katrine M; Stefanski, Arthur; Demarest, Scott; Helbig, Katherine L; Kang, Jingqiong; Shaffo, Frances C; Prentice, Brandon; Brownstein, Catherine A; Lim, Byungchan; Helbig, Ingo; De Los Reyes, Emily; McKnight, Dianalee; Crunelli, Vincenzo; Campbell, Arthur J; Møller, Rikke S; Freed, Amber; Lal, Dennis (1 July 2020). "Current knowledge of SLC6A1-related neurodevelopmental disorders". Brain Communications. 2 (2): fcaa170. doi:10.1093/braincomms/fcaa170. PMC 7677605. PMID 33241211.
Poukas, VS; Pollard, JR; Anderson, CT (August 2011). "Rescue therapies for seizures". Current Neurology and Neuroscience Reports. 11 (4): 418–22. doi:10.1007/s11910-011-0207-x. PMID 21509498. S2CID 20170316.
Palmer, S; Towne, MC; Pearl, PL; Pelletier, RC; Genetti, CA; Shi, J; Beggs, AH; Agrawal, PB; Brownstein, CA (November 2016). "SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures". Pediatric Neurology. 64: 77–79. doi:10.1016/j.pediatrneurol.2016.07.012. PMC 5223550. PMID 27600546.

nih.gov

pubmed.ncbi.nlm.nih.gov

Johannesen, Katrine M.; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; de Saint Martin, Anne; Lehesjoki, Anna-Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi-Warde, Marie-Thérèse; Chelly, Jamel; Piton, Amélie; Merritt, J. Lawrence; Rodan, Lance H.; Tan, Wen-Hann; Bird, Lynne M.; Nespeca, Mark; Gleeson, Joseph G.; Yoo, Yongjin; Choi, Murim; Chae, Jong-Hee; Czapansky-Beilman, Desiree; Reichert, Sara Chadwick; Pendziwiat, Manuela; Verhoeven, Judith S.; Schelhaas, Helenius J.; Devinsky, Orrin; Christensen, Jakob; Specchio, Nicola; Trivisano, Marina; Weber, Yvonne G.; Nava, Caroline; Keren, Boris; Doummar, Diane; Schaefer, Elise; Hopkins, Sarah; Dubbs, Holly; Shaw, Jessica E.; Pisani, Laura; Myers, Candace T.; Tang, Sha; Tang, Shan; Pal, Deb K.; Millichap, John J.; Carvill, Gemma L.; Helbig, Kathrine L.; Mecarelli, Oriano; Striano, Pasquale; Helbig, Ingo; Rubboli, Guido; Mefford, Heather C.; Møller, Rikke S. (February 2018). "Defining the phenotypic spectrum of SLC6A1 mutations". Epilepsia. 59 (2): 389–402. doi:10.1111/epi.13986. PMC 7677605. PMID 33241211.
Goodspeed, Kimberly; Pérez-Palma, Eduardo; Iqbal, Sumaiya; Cooper, Dominique; Scimemi, Annalisa; Johannesen, Katrine M; Stefanski, Arthur; Demarest, Scott; Helbig, Katherine L; Kang, Jingqiong; Shaffo, Frances C; Prentice, Brandon; Brownstein, Catherine A; Lim, Byungchan; Helbig, Ingo; De Los Reyes, Emily; McKnight, Dianalee; Crunelli, Vincenzo; Campbell, Arthur J; Møller, Rikke S; Freed, Amber; Lal, Dennis (1 July 2020). "Current knowledge of SLC6A1-related neurodevelopmental disorders". Brain Communications. 2 (2): fcaa170. doi:10.1093/braincomms/fcaa170. PMC 7677605. PMID 33241211.
Poukas, VS; Pollard, JR; Anderson, CT (August 2011). "Rescue therapies for seizures". Current Neurology and Neuroscience Reports. 11 (4): 418–22. doi:10.1007/s11910-011-0207-x. PMID 21509498. S2CID 20170316.
Palmer, S; Towne, MC; Pearl, PL; Pelletier, RC; Genetti, CA; Shi, J; Beggs, AH; Agrawal, PB; Brownstein, CA (November 2016). "SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures". Pediatric Neurology. 64: 77–79. doi:10.1016/j.pediatrneurol.2016.07.012. PMC 5223550. PMID 27600546.

ncbi.nlm.nih.gov

Johannesen, Katrine M.; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; de Saint Martin, Anne; Lehesjoki, Anna-Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi-Warde, Marie-Thérèse; Chelly, Jamel; Piton, Amélie; Merritt, J. Lawrence; Rodan, Lance H.; Tan, Wen-Hann; Bird, Lynne M.; Nespeca, Mark; Gleeson, Joseph G.; Yoo, Yongjin; Choi, Murim; Chae, Jong-Hee; Czapansky-Beilman, Desiree; Reichert, Sara Chadwick; Pendziwiat, Manuela; Verhoeven, Judith S.; Schelhaas, Helenius J.; Devinsky, Orrin; Christensen, Jakob; Specchio, Nicola; Trivisano, Marina; Weber, Yvonne G.; Nava, Caroline; Keren, Boris; Doummar, Diane; Schaefer, Elise; Hopkins, Sarah; Dubbs, Holly; Shaw, Jessica E.; Pisani, Laura; Myers, Candace T.; Tang, Sha; Tang, Shan; Pal, Deb K.; Millichap, John J.; Carvill, Gemma L.; Helbig, Kathrine L.; Mecarelli, Oriano; Striano, Pasquale; Helbig, Ingo; Rubboli, Guido; Mefford, Heather C.; Møller, Rikke S. (February 2018). "Defining the phenotypic spectrum of SLC6A1 mutations". Epilepsia. 59 (2): 389–402. doi:10.1111/epi.13986. PMC 7677605. PMID 33241211.
Goodspeed, Kimberly; Pérez-Palma, Eduardo; Iqbal, Sumaiya; Cooper, Dominique; Scimemi, Annalisa; Johannesen, Katrine M; Stefanski, Arthur; Demarest, Scott; Helbig, Katherine L; Kang, Jingqiong; Shaffo, Frances C; Prentice, Brandon; Brownstein, Catherine A; Lim, Byungchan; Helbig, Ingo; De Los Reyes, Emily; McKnight, Dianalee; Crunelli, Vincenzo; Campbell, Arthur J; Møller, Rikke S; Freed, Amber; Lal, Dennis (1 July 2020). "Current knowledge of SLC6A1-related neurodevelopmental disorders". Brain Communications. 2 (2): fcaa170. doi:10.1093/braincomms/fcaa170. PMC 7677605. PMID 33241211.
Palmer, S; Towne, MC; Pearl, PL; Pelletier, RC; Genetti, CA; Shi, J; Beggs, AH; Agrawal, PB; Brownstein, CA (November 2016). "SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures". Pediatric Neurology. 64: 77–79. doi:10.1016/j.pediatrneurol.2016.07.012. PMC 5223550. PMID 27600546.

rarediseases.org

"SLC6A1 Epileptic Encephalopathy". NORD (National Organization for Rare Disorders).

semanticscholar.org

api.semanticscholar.org

Poukas, VS; Pollard, JR; Anderson, CT (August 2011). "Rescue therapies for seizures". Current Neurology and Neuroscience Reports. 11 (4): 418–22. doi:10.1007/s11910-011-0207-x. PMID 21509498. S2CID 20170316.

slc6a1connect.org

"Parent and Family Scientific Overview". SLC6A1 Connect. 19 March 2022.