Defining the phenotypic spectrum of SLC6A1 mutations

Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna-Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaetan Lesca, Marie-Therese Abi-Warde, Jamel Chelly, Amelie Piton, J. Lawrence Merritt, Lance H. Rodan, Wen-Hann Tan, Lynne M. Bird, Mark Nespeca, Joseph G. Gleeson, Yongjin Yoo, Murim Choi & 30 andra Jong-Hee Chae, Desiree Czapansky-Beilman, Sara Chadwick Reichert, Manuela Pendziwiat, Judith S. Verhoeven, Helenius J. Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G. Weber, Caroline Nava, Boris Keren, Diane Doummar, Elise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica E. Shaw, Laura Pisani, Candace T. Myers, Sha Tang, Shan Tang, Deb K. Pal, John J. Millichap, Gemma L. Carvill, Kathrine L. Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

Originalspråkengelska
TidskriftEpilepsia
Volym59
Utgåva2
Sidor (från-till)389-402
Antal sidor14
ISSN0013-9580
DOI
StatusPublicerad - feb 2018
MoE-publikationstypA1 Tidskriftsartikel-refererad

Vetenskapsgrenar

  • 3112 Neurovetenskaper
  • 3124 Neurologi och psykiatri

Citera det här

Johannesen, K. M., Gardella, E., Linnankivi, T., Courage, C., de Saint Martin, A., Lehesjoki, A-E., ... Rubboli, G. (2018). Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia, 59(2), 389-402. https://doi.org/10.1111/epi.13986
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 ; 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. / Defining the phenotypic spectrum of SLC6A1 mutations. I: Epilepsia. 2018 ; Vol. 59, Nr. 2. s. 389-402.
@article{05c8c8186e4b45a28122e47176977889,
title = "Defining the phenotypic spectrum of SLC6A1 mutations",
keywords = "epilepsy, epilepsy genetics, MAE, SLC6A1, MYOCLONIC-ASTATIC EPILEPSY, CHILDHOOD ABSENCE EPILEPSY, INTELLECTUAL DISABILITY, GABA TRANSPORTERS, ILAE COMMISSION, POSITION PAPER, SEIZURES, CLASSIFICATION, TERMINOLOGY, ATTENTION, 3112 Neurosciences, 3124 Neurology and psychiatry",
author = "Johannesen, {Katrine M.} and Elena Gardella and Tarja Linnankivi and Carolina Courage and {de Saint Martin}, Anne and Anna-Elina Lehesjoki and Cyril Mignot and Alexandra Afenjar and Gaetan Lesca and Marie-Therese Abi-Warde and Jamel Chelly and Amelie Piton and Merritt, {J. Lawrence} and Rodan, {Lance H.} and Wen-Hann Tan and Bird, {Lynne M.} and Mark Nespeca and Gleeson, {Joseph G.} and Yongjin Yoo and Murim Choi and Jong-Hee Chae and Desiree Czapansky-Beilman and Reichert, {Sara Chadwick} and Manuela Pendziwiat and Verhoeven, {Judith S.} and Schelhaas, {Helenius J.} and Orrin Devinsky and Jakob Christensen and Nicola Specchio and Marina Trivisano and Weber, {Yvonne G.} and Caroline Nava and Boris Keren and Diane Doummar and Elise Schaefer and Sarah Hopkins and Holly Dubbs and Shaw, {Jessica E.} and Laura Pisani and Myers, {Candace T.} and Sha Tang and Shan Tang and Pal, {Deb K.} and Millichap, {John J.} and Carvill, {Gemma L.} and Helbig, {Kathrine L.} and Oriano Mecarelli and Pasquale Striano and Ingo Helbig and Guido Rubboli",
year = "2018",
month = "2",
doi = "10.1111/epi.13986",
language = "English",
volume = "59",
pages = "389--402",
journal = "Epilepsia",
issn = "0013-9580",
publisher = "Wiley",
number = "2",

}

Johannesen, KM, 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, JL, Rodan, LH, Tan, W-H, Bird, LM, Nespeca, M, Gleeson, JG, Yoo, Y, Choi, M, Chae, J-H, Czapansky-Beilman, D, Reichert, SC, Pendziwiat, M, Verhoeven, JS, Schelhaas, HJ, Devinsky, O, Christensen, J, Specchio, N, Trivisano, M, Weber, YG, Nava, C, Keren, B, Doummar, D, Schaefer, E, Hopkins, S, Dubbs, H, Shaw, JE, Pisani, L, Myers, CT, Tang, S, Tang, S, Pal, DK, Millichap, JJ, Carvill, GL, Helbig, KL, Mecarelli, O, Striano, P, Helbig, I & Rubboli, G 2018, 'Defining the phenotypic spectrum of SLC6A1 mutations' Epilepsia, vol. 59, nr. 2, s. 389-402. https://doi.org/10.1111/epi.13986

Defining the phenotypic spectrum of SLC6A1 mutations. / 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; 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.

I: Epilepsia, Vol. 59, Nr. 2, 02.2018, s. 389-402.

Forskningsoutput: TidskriftsbidragArtikelVetenskapligPeer review

TY - JOUR

T1 - Defining the phenotypic spectrum of SLC6A1 mutations

AU - Johannesen, Katrine M.

AU - Gardella, Elena

AU - Linnankivi, Tarja

AU - Courage, Carolina

AU - de Saint Martin, Anne

AU - Lehesjoki, Anna-Elina

AU - Mignot, Cyril

AU - Afenjar, Alexandra

AU - Lesca, Gaetan

AU - Abi-Warde, Marie-Therese

AU - Chelly, Jamel

AU - Piton, Amelie

AU - Merritt, J. Lawrence

AU - Rodan, Lance H.

AU - Tan, Wen-Hann

AU - Bird, Lynne M.

AU - Nespeca, Mark

AU - Gleeson, Joseph G.

AU - Yoo, Yongjin

AU - Choi, Murim

AU - Chae, Jong-Hee

AU - Czapansky-Beilman, Desiree

AU - Reichert, Sara Chadwick

AU - Pendziwiat, Manuela

AU - Verhoeven, Judith S.

AU - Schelhaas, Helenius J.

AU - Devinsky, Orrin

AU - Christensen, Jakob

AU - Specchio, Nicola

AU - Trivisano, Marina

AU - Weber, Yvonne G.

AU - Nava, Caroline

AU - Keren, Boris

AU - Doummar, Diane

AU - Schaefer, Elise

AU - Hopkins, Sarah

AU - Dubbs, Holly

AU - Shaw, Jessica E.

AU - Pisani, Laura

AU - Myers, Candace T.

AU - Tang, Sha

AU - Tang, Shan

AU - Pal, Deb K.

AU - Millichap, John J.

AU - Carvill, Gemma L.

AU - Helbig, Kathrine L.

AU - Mecarelli, Oriano

AU - Striano, Pasquale

AU - Helbig, Ingo

AU - Rubboli, Guido

PY - 2018/2

Y1 - 2018/2

KW - epilepsy

KW - epilepsy genetics

KW - MAE

KW - SLC6A1

KW - MYOCLONIC-ASTATIC EPILEPSY

KW - CHILDHOOD ABSENCE EPILEPSY

KW - INTELLECTUAL DISABILITY

KW - GABA TRANSPORTERS

KW - ILAE COMMISSION

KW - POSITION PAPER

KW - SEIZURES

KW - CLASSIFICATION

KW - TERMINOLOGY

KW - ATTENTION

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

U2 - 10.1111/epi.13986

DO - 10.1111/epi.13986

M3 - Article

VL - 59

SP - 389

EP - 402

JO - Epilepsia

JF - Epilepsia

SN - 0013-9580

IS - 2

ER -

Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki A-E et al. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. 2018 feb;59(2):389-402. https://doi.org/10.1111/epi.13986