Defining the phenotypic spectrum of SLC6A1 mutations

Autor: Elena Gardella, Diane Doummar, Orrin Devinsky, Nicola Specchio, Holly Dubbs, Lance H. Rodan, Caroline Nava, Elise Schaefer, Jessica E. Shaw, Desiree Czapansky-Beilman, Tarja Linnankivi, Rikke S. Møller, Helenius J. Schelhaas, Kathrine L. Helbig, Jakob Christensen, Jamel Chelly, Gemma L. Carvill, Sarah E. Hopkins, Sara Chadwick Reichert, Marina Trivisano, Amélie Piton, Candace T. Myers, Pasquale Striano, Katrine M Johannesen, Alexandra Afenjar, Judith S. Verhoeven, John Millichap, Yongjin Yoo, Oriano Mecarelli, Murim Choi, Jong Hee Chae, Joseph G. Gleeson, Heather C Mefford, Gaetan Lesca, Laura Pisani, Boris Keren, Sha Tang, Marie Thérèse Abi-Warde, Carolina Courage, Ingo Helbig, Deb K. Pal, Guido Rubboli, Lynne M. Bird, Manuela Pendziwiat, Cyril Mignot, Shan Tang, J. Lawrence Merritt, Yvonne G. Weber, Anna-Elina Lehesjoki, Wen-Hann Tan, Anne de Saint Martin, Mark Nespeca

Publikováno v: Epilepsia
Epilepsia, Wiley, 2018, 32 (2), pp.389-402. ⟨10.1111/epi.13986⟩
Johannesen, K M, Gardella, E, Linnankivi, T, Courage, C, de Saint Martin, A, Lehesjoki, A E, Mignot, C, Afenjar, A, Lesca, G, Abi-Warde, M T, Chelly, J, Piton, A, Merritt, J L, Rodan, L H, Tan, W H, Bird, L M, Nespeca, M, Gleeson, J G, Yoo, Y, Choi, M, Chae, J H, Czapansky-Beilman, D, Reichert, S C, Pendziwiat, M, Verhoeven, J S, Schelhaas, H J, Devinsky, O, Christensen, J, Specchio, N, Trivisano, M, Weber, Y G, Nava, C, Keren, B, Doummar, D, Schaefer, E, Hopkins, S, Dubbs, H, Shaw, J E, Pisani, L, Myers, C T, Tang, S, Tang, S, Pal, D K, Millichap, J J, Carvill, G L, Helbig, K L, Mecarelli, O, Striano, P, Rubboli, G & Møller, R S 2018, ' Defining the phenotypic spectrum of SLC6A1 mutations ', Epilepsia, vol. 59, no. 2, pp. 389-402 . https://doi.org/10.1111/epi.13986
Johannesen, K M, Gardella, E, Linnankivi, T, Courage, C, de Saint Martin, A, Lehesjoki, A-E, Mignot, C, Afenjar, A, Lesca, G, Abi-Warde, M-T, Chelly, J, Piton, A, Merritt, J L, Rodan, L H, Tan, W-H, Bird, L M, Nespeca, M, Gleeson, J G, Yoo, Y, Choi, M, Chae, J-H, Czapansky-Beilman, D, Reichert, S C, Pendziwiat, M, Verhoeven, J S, Schelhaas, H J, Devinsky, O, Christensen, J, Specchio, N, Trivisano, M, Weber, Y G, Nava, C, Keren, B, Doummar, D, Schaefer, E, Hopkins, S, Dubbs, H, Shaw, J E, Pisani, L, Myers, C T, Tang, S, Tang, S, Pal, D K, Millichap, J J, Carvill, G L, Helbig, K L, Mecarelli, O, Striano, P, Helbig, I, Rubboli, G, Mefford, H C & Møller, R S 2018, ' Defining the phenotypic spectrum of SLC6A1 mutations ', Epilepsia, vol. 59, no. 2, pp. 389-402 . https://doi.org/10.1111/epi.13986
Epilepsia, vol 59, iss 2

OBJECTIVE: Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients.METHODS: We co

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http://hdl.handle.net/11573/1076617