Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

M von Wolff; KM Johannesen; UBS Hedrich; S Masnada; G Rubboli; E Gardella; G Lesca; D Ville; M Milh; L Villard; A Afenjar; S Chantot-Bastaraud; C Mignot; C Lardennois; C Nava; N Schwarz; M Gerard; L Perrin; D Doummar; S Auvin; MJ Miranda; M Hempel; E Brilstra; N Knoers; N Verbeek; M van Kempen; KP Braun; Grazia Verheijen - Mancini; S Biskup; K Hortnagel; M Docker; T Bast; T Loddenkemper; L Wong-Kisiel; FM Baumeister; W Fazeli; P Striano; R Dilena; E Fontana; F Zara; G Kurlemann; J Klepper; JG Thoene; DH Arndt; N Deconinck; T Schmitt-Mechelke; O Maier; H Muhle; B Wical; C Finetti; R Bruckner; J Pietz; G Golla; D Jillella; KM Linnet; P Charles; U Moog; E Oiglane-Shlik; JF Mantovani; K Park; M Deprez; D Lederer; S Mary; E Scalais; L Selim; R Van Coster; L Lagae; M Nikanorova; H Hjalgrim; GC Korenke; M Trivisano; N Specchio; B Ceulemans; T Dorn; KL Helbig; K Hardies; H Stamberger; P De Jonghe; S Weckhuysen; JR Lemke; I Krageloh-Mann; I Helbig; G Kluger; H Lerche; RS Moller

doi:10.1093/brain/awx054

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

M von Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, E Gardella, G Lesca, D Ville, M Milh, L Villard, A Afenjar, S Chantot-Bastaraud, C Mignot, C Lardennois, C Nava, N Schwarz, M Gerard, L Perrin, D Doummar, S AuvinMJ Miranda, M Hempel, E Brilstra, N Knoers, N Verbeek, M van Kempen, KP Braun, Grazia Verheijen - Mancini, S Biskup, K Hortnagel, M Docker, T Bast, T Loddenkemper, L Wong-Kisiel, FM Baumeister, W Fazeli, P Striano, R Dilena, E Fontana, F Zara, G Kurlemann, J Klepper, JG Thoene, DH Arndt, N Deconinck, T Schmitt-Mechelke, O Maier, H Muhle, B Wical, C Finetti, R Bruckner, J Pietz, G Golla, D Jillella, KM Linnet, P Charles, U Moog, E Oiglane-Shlik, JF Mantovani, K Park, M Deprez, D Lederer, S Mary, E Scalais, L Selim, R Van Coster, L Lagae, M Nikanorova, H Hjalgrim, GC Korenke, M Trivisano, N Specchio, B Ceulemans, T Dorn, KL Helbig, K Hardies, H Stamberger, P De Jonghe, S Weckhuysen, JR Lemke, I Krageloh-Mann, I Helbig, G Kluger, H Lerche, RS Moller

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

308 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1316-1336
Number of pages	21
Journal	Brain
Volume	140
DOIs	https://doi.org/10.1093/brain/awx054
Publication status	Published - 2017

Access to Document

10.1093/brain/awx054

http://hdl.handle.net/1765/100043

Cite this

von Wolff, M., Johannesen, KM., Hedrich, UBS., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., Afenjar, A., Chantot-Bastaraud, S., Mignot, C., Lardennois, C., Nava, C., Schwarz, N., Gerard, M., Perrin, L., Doummar, D., ... Moller, RS. (2017). Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain, 140, 1316-1336. https://doi.org/10.1093/brain/awx054

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title = "Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders",

author = "{von Wolff}, M and KM Johannesen and UBS Hedrich and S Masnada and G Rubboli and E Gardella and G Lesca and D Ville and M Milh and L Villard and A Afenjar and S Chantot-Bastaraud and C Mignot and C Lardennois and C Nava and N Schwarz and M Gerard and L Perrin and D Doummar and S Auvin and MJ Miranda and M Hempel and E Brilstra and N Knoers and N Verbeek and {van Kempen}, M and KP Braun and {Verheijen - Mancini}, Grazia and S Biskup and K Hortnagel and M Docker and T Bast and T Loddenkemper and L Wong-Kisiel and FM Baumeister and W Fazeli and P Striano and R Dilena and E Fontana and F Zara and G Kurlemann and J Klepper and JG Thoene and DH Arndt and N Deconinck and T Schmitt-Mechelke and O Maier and H Muhle and B Wical and C Finetti and R Bruckner and J Pietz and G Golla and D Jillella and KM Linnet and P Charles and U Moog and E Oiglane-Shlik and JF Mantovani and K Park and M Deprez and D Lederer and S Mary and E Scalais and L Selim and {Van Coster}, R and L Lagae and M Nikanorova and H Hjalgrim and GC Korenke and M Trivisano and N Specchio and B Ceulemans and T Dorn and KL Helbig and K Hardies and H Stamberger and {De Jonghe}, P and S Weckhuysen and JR Lemke and I Krageloh-Mann and I Helbig and G Kluger and H Lerche and RS Moller",

year = "2017",

doi = "10.1093/brain/awx054",

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volume = "140",

pages = "1316--1336",

journal = "Brain",

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publisher = "Oxford University Press",

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von Wolff, M, Johannesen, KM, Hedrich, UBS, Masnada, S, Rubboli, G, Gardella, E, Lesca, G, Ville, D, Milh, M, Villard, L, Afenjar, A, Chantot-Bastaraud, S, Mignot, C, Lardennois, C, Nava, C, Schwarz, N, Gerard, M, Perrin, L, Doummar, D, Auvin, S, Miranda, MJ, Hempel, M, Brilstra, E, Knoers, N, Verbeek, N, van Kempen, M, Braun, KP, Verheijen - Mancini, G, Biskup, S, Hortnagel, K, Docker, M, Bast, T, Loddenkemper, T, Wong-Kisiel, L, Baumeister, FM, Fazeli, W, Striano, P, Dilena, R, Fontana, E, Zara, F, Kurlemann, G, Klepper, J, Thoene, JG, Arndt, DH, Deconinck, N, Schmitt-Mechelke, T, Maier, O, Muhle, H, Wical, B, Finetti, C, Bruckner, R, Pietz, J, Golla, G, Jillella, D, Linnet, KM, Charles, P, Moog, U, Oiglane-Shlik, E, Mantovani, JF, Park, K, Deprez, M, Lederer, D, Mary, S, Scalais, E, Selim, L, Van Coster, R, Lagae, L, Nikanorova, M, Hjalgrim, H, Korenke, GC, Trivisano, M, Specchio, N, Ceulemans, B, Dorn, T, Helbig, KL, Hardies, K, Stamberger, H, De Jonghe, P, Weckhuysen, S, Lemke, JR, Krageloh-Mann, I, Helbig, I, Kluger, G, Lerche, H & Moller, RS 2017, 'Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders', Brain, vol. 140, pp. 1316-1336. https://doi.org/10.1093/brain/awx054

TY - JOUR

T1 - Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

AU - von Wolff, M

AU - Johannesen, KM

AU - Hedrich, UBS

AU - Masnada, S

AU - Rubboli, G

AU - Gardella, E

AU - Lesca, G

AU - Ville, D

AU - Milh, M

AU - Villard, L

AU - Afenjar, A

AU - Chantot-Bastaraud, S

AU - Mignot, C

AU - Lardennois, C

AU - Nava, C

AU - Schwarz, N

AU - Gerard, M

AU - Perrin, L

AU - Doummar, D

AU - Auvin, S

AU - Miranda, MJ

AU - Hempel, M

AU - Brilstra, E

AU - Knoers, N

AU - Verbeek, N

AU - van Kempen, M

AU - Braun, KP

AU - Verheijen - Mancini, Grazia

AU - Biskup, S

AU - Hortnagel, K

AU - Docker, M

AU - Bast, T

AU - Loddenkemper, T

AU - Wong-Kisiel, L

AU - Baumeister, FM

AU - Fazeli, W

AU - Striano, P

AU - Dilena, R

AU - Fontana, E

AU - Zara, F

AU - Kurlemann, G

AU - Klepper, J

AU - Thoene, JG

AU - Arndt, DH

AU - Deconinck, N

AU - Schmitt-Mechelke, T

AU - Maier, O

AU - Muhle, H

AU - Wical, B

AU - Finetti, C

AU - Bruckner, R

AU - Pietz, J

AU - Golla, G

AU - Jillella, D

AU - Linnet, KM

AU - Charles, P

AU - Moog, U

AU - Oiglane-Shlik, E

AU - Mantovani, JF

AU - Park, K

AU - Deprez, M

AU - Lederer, D

AU - Mary, S

AU - Scalais, E

AU - Selim, L

AU - Van Coster, R

AU - Lagae, L

AU - Nikanorova, M

AU - Hjalgrim, H

AU - Korenke, GC

AU - Trivisano, M

AU - Specchio, N

AU - Ceulemans, B

AU - Dorn, T

AU - Helbig, KL

AU - Hardies, K

AU - Stamberger, H

AU - De Jonghe, P

AU - Weckhuysen, S

AU - Lemke, JR

AU - Krageloh-Mann, I

AU - Helbig, I

AU - Kluger, G

AU - Lerche, H

AU - Moller, RS

PY - 2017

Y1 - 2017

U2 - 10.1093/brain/awx054

DO - 10.1093/brain/awx054

M3 - Article

SN - 0006-8950

VL - 140

SP - 1316

EP - 1336

JO - Brain

JF - Brain

ER -