Defining the phenotypic spectrum of SLC6A1 mutations

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Defining the phenotypic spectrum of SLC6A1 mutations

Author: 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-Therese; Chelly, Jamel; Piton, Amelie; Merritt, J. Lawrence, II; 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.; Moller, Rikke S.
Tübinger Autor(en):
Weber, Yvonne G.
Published in: Epilepsia (2018), Bd. 59, H. 2, S. 389-402
Verlagsangabe: Wiley
Language: English
Full text: http://dx.doi.org/10.1111/epi.13986
ISSN: 1528-1167
DDC Classifikation: 610 - Medicine and health
Dokumentart: Article
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