Defining the phenotypic spectrum of SLC6A1 mutations

K.M. Johannesen; E. Gardella; T. Linnankivi; C. Courage; A. de Saint Martin; A.-E. Lehesjoki; C. Mignot; A. Afenjar; G. Lesca; M.-T. Abi-Warde; J. Chelly; A. Piton; J.L. Merritt; L.H. Rodan; W.-H. Tan; L.M. Bird; M. Nespeca; J.G. Gleeson; Y. Yoo; M. Choi; J.-H. Chae; D. Czapansky-Beilman; S.C. Reichert; M. Pendziwiat; J.S. Verhoeven; H.J. Schelhaas; O. Devinsky; J. Christensen; N. Specchio; M. Trivisano; Y.G. Weber; C. Nava; B. Keren; D. Doummar; E. Schaefer; S. Hopkins; H. Dubbs; J.E. Shaw; L. Pisani; C.T. Myers; S. Tang; S. Tang; D.K. Pal; J.J. Millichap; G.L. Carvill; K.L. Helbig; O. Mecarelli; P. Striano; I. Helbig; G. Rubboli; H.C. Mefford; R.S. Møller

doi:10.1111/epi.13986

Defining the phenotypic spectrum of SLC6A1 mutations

K.M. Johannesen
, E. Gardella
, T. Linnankivi
, C. Courage
, A. de Saint Martin
, A.-E. Lehesjoki
, C. Mignot
, A. Afenjar
, G. Lesca
, M.-T. Abi-Warde
, J. Chelly
, A. Piton
, J.L. Merritt
, L.H. Rodan
, W.-H. Tan
, L.M. Bird
, M. Nespeca
, J.G. Gleeson
, Y. Yoo
, M. Choi

J.-H. Chae, D. Czapansky-Beilman, S.C. Reichert, M. Pendziwiat, J.S. Verhoeven, H.J. Schelhaas, O. Devinsky, J. Christensen, N. Specchio, M. Trivisano, Y.G. Weber, C. Nava, B. Keren, D. Doummar, E. Schaefer, S. Hopkins, H. Dubbs, J.E. Shaw, L. Pisani, C.T. Myers, S. Tang, S. Tang, D.K. Pal, J.J. Millichap, G.L. Carvill, K.L. Helbig, O. Mecarelli, P. Striano, I. Helbig, G. Rubboli, H.C. Mefford, R.S. Møller

128 Citationer (Scopus)

Originalsprog	Udefineret/Ukendt
Tidsskrift	Epilepsia
ISSN	0013-9580
DOI	https://doi.org/10.1111/epi.13986
Status	Udgivet - 2018
Udgivet eksternt	Ja

Adgang til dokumentet

10.1111/epi.13986

Andre filer og links

https://www.scopus.com/pages/publications/85041378864

Citationsformater

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., ... Møller, R. S. (2018). Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. https://doi.org/10.1111/epi.13986

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, Mefford, HC & Møller, RS 2018, 'Defining the phenotypic spectrum of SLC6A1 mutations', Epilepsia. https://doi.org/10.1111/epi.13986

@article{3e6b2d2fa94c4d29b59590ba6fb77476,

title = "Defining the phenotypic spectrum of SLC6A1 mutations",

author = "K.M. Johannesen and E. Gardella and T. Linnankivi and C. Courage and \{de Saint Martin\}, A. and A.-E. Lehesjoki and C. Mignot and A. Afenjar and G. Lesca and M.-T. Abi-Warde and J. Chelly and A. Piton and J.L. Merritt and L.H. Rodan and W.-H. Tan and L.M. Bird and M. Nespeca and J.G. Gleeson and Y. Yoo and M. Choi and J.-H. Chae and D. Czapansky-Beilman and S.C. Reichert and M. Pendziwiat and J.S. Verhoeven and H.J. Schelhaas and O. Devinsky and J. Christensen and N. Specchio and M. Trivisano and Y.G. Weber and C. Nava and B. Keren and D. Doummar and E. Schaefer and S. Hopkins and H. Dubbs and J.E. Shaw and L. Pisani and C.T. Myers and S. Tang and S. Tang and D.K. Pal and J.J. Millichap and G.L. Carvill and K.L. Helbig and O. Mecarelli and P. Striano and I. Helbig and G. Rubboli and H.C. Mefford and R.S. M{\o}ller",

year = "2018",

doi = "10.1111/epi.13986",

language = "Udefineret/Ukendt",

journal = "Epilepsia",

issn = "0013-9580",

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TY - JOUR

T1 - Defining the phenotypic spectrum of SLC6A1 mutations

AU - Johannesen, K.M.

AU - Gardella, E.

AU - Linnankivi, T.

AU - Courage, C.

AU - de Saint Martin, A.

AU - Lehesjoki, A.-E.

AU - Mignot, C.

AU - Afenjar, A.

AU - Lesca, G.

AU - Abi-Warde, M.-T.

AU - Chelly, J.

AU - Piton, A.

AU - Merritt, J.L.

AU - Rodan, L.H.

AU - Tan, W.-H.

AU - Bird, L.M.

AU - Nespeca, M.

AU - Gleeson, J.G.

AU - Yoo, Y.

AU - Choi, M.

AU - Chae, J.-H.

AU - Czapansky-Beilman, D.

AU - Reichert, S.C.

AU - Pendziwiat, M.

AU - Verhoeven, J.S.

AU - Schelhaas, H.J.

AU - Devinsky, O.

AU - Christensen, J.

AU - Specchio, N.

AU - Trivisano, M.

AU - Weber, Y.G.

AU - Nava, C.

AU - Keren, B.

AU - Doummar, D.

AU - Schaefer, E.

AU - Hopkins, S.

AU - Dubbs, H.

AU - Shaw, J.E.

AU - Pisani, L.

AU - Myers, C.T.

AU - Tang, S.

AU - Pal, D.K.

AU - Millichap, J.J.

AU - Carvill, G.L.

AU - Helbig, K.L.

AU - Mecarelli, O.

AU - Striano, P.

AU - Helbig, I.

AU - Rubboli, G.

AU - Mefford, H.C.

AU - Møller, R.S.

PY - 2018

Y1 - 2018

UR - https://www.scopus.com/pages/publications/85041378864

U2 - 10.1111/epi.13986

DO - 10.1111/epi.13986

M3 - Tidsskriftartikel

SN - 0013-9580

JO - Epilepsia

JF - Epilepsia

ER -