Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

C Mignot; C von Stulpnagel; C Nava; D Ville; D Sanlaville; G Lesca; A Rastetter; B Gachet; Y Marie; GC Korenke; I Borggraefe; D Hoffmann-Zacharska; E Szczepanik; M Rudzka-Dybala; U Yis; H Caglayan; A Isapof; I Marey; E Panagiotakaki; C Korff; E Rossier; A Riess; S Beck-Woedl; A Rauch; C Zweier; J Hoyer; A Reis; M Mironov; M Bobylova; K Mukhin; L Hernandez-Hernandez; B Maher; S Sisodiya; M Kuhn; D Glaeser; S Wechuysen; CT Myers; HC Mefford; K Hortnagel; S Biskup; JR Lemke; D Heron; Gerhard Kluger; C Depienne

doi:10.1136/jmedgenet-2015-103451

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

C Mignot
, C von Stulpnagel
, C Nava
, D Ville
, D Sanlaville
, G Lesca
, A Rastetter
, B Gachet
, Y Marie
, GC Korenke
, I Borggraefe
, D Hoffmann-Zacharska
, E Szczepanik
, M Rudzka-Dybala
, U Yis
, H Caglayan
, A Isapof
, I Marey
, E Panagiotakaki
, C Korff

E Rossier, A Riess, S Beck-Woedl, A Rauch, C Zweier, J Hoyer, A Reis, M Mironov, M Bobylova, K Mukhin, L Hernandez-Hernandez, B Maher, S Sisodiya, M Kuhn, D Glaeser, S Wechuysen, CT Myers, HC Mefford, K Hortnagel, S Biskup, JR Lemke, D Heron, Gerhard Kluger (Co-author), C Depienne

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

133 Citations (Web of Science)

Original language	English
Pages (from-to)	511-522
Journal	JOURNAL OF MEDICAL GENETICS
Volume	53
Issue number	8
DOIs	https://doi.org/10.1136/jmedgenet-2015-103451
Publication status	Published - 2016

Keywords

DE-NOVO MUTATIONS
GTPASE-ACTIVATING PROTEIN
MENTAL-RETARDATION
NMDA RECEPTOR
SYNAPTIC PLASTICITY
SPEECH IMPAIRMENT
SYNGAP1 CAUSE
AUTISM
SEIZURES
HAPLOINSUFFICIENCY

Access to Document

10.1136/jmedgenet-2015-103451

Cite this

Mignot, C., von Stulpnagel, C., Nava, C., Ville, D., Sanlaville, D., Lesca, G., Rastetter, A., Gachet, B., Marie, Y., Korenke, GC., Borggraefe, I., Hoffmann-Zacharska, D., Szczepanik, E., Rudzka-Dybala, M., Yis, U., Caglayan, H., Isapof, A., Marey, I., Panagiotakaki, E., ... Depienne, C. (2016). Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. JOURNAL OF MEDICAL GENETICS , 53(8), 511-522. https://doi.org/10.1136/jmedgenet-2015-103451

Mignot, C ; von Stulpnagel, C ; Nava, C et al. / Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. In: JOURNAL OF MEDICAL GENETICS 2016 ; Vol. 53, No. 8. pp. 511-522.

@article{3cf79962140847219e4735d2b953e6b4,

title = "Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy",

keywords = "DE-NOVO MUTATIONS, GTPASE-ACTIVATING PROTEIN, MENTAL-RETARDATION, NMDA RECEPTOR, SYNAPTIC PLASTICITY, SPEECH IMPAIRMENT, SYNGAP1 CAUSE, AUTISM, SEIZURES, HAPLOINSUFFICIENCY",

author = "C Mignot and \{von Stulpnagel\}, C and C Nava and D Ville and D Sanlaville and G Lesca and A Rastetter and B Gachet and Y Marie and GC Korenke and I Borggraefe and D Hoffmann-Zacharska and E Szczepanik and M Rudzka-Dybala and U Yis and H Caglayan and A Isapof and I Marey and E Panagiotakaki and C Korff and E Rossier and A Riess and S Beck-Woedl and A Rauch and C Zweier and J Hoyer and A Reis and M Mironov and M Bobylova and K Mukhin and L Hernandez-Hernandez and B Maher and S Sisodiya and M Kuhn and D Glaeser and S Wechuysen and CT Myers and HC Mefford and K Hortnagel and S Biskup and JR Lemke and D Heron and Gerhard Kluger and C Depienne",

note = "von St{\"u}lpnagel, Kluger: Paracelsus Medical University Salzburg, Austria; CM, CvS, and CN contributed equally",

year = "2016",

doi = "10.1136/jmedgenet-2015-103451",

language = "English",

volume = "53",

pages = "511--522",

journal = "JOURNAL OF MEDICAL GENETICS ",

issn = "0022-2593",

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}

Mignot, C, von Stulpnagel, C, Nava, C, Ville, D, Sanlaville, D, Lesca, G, Rastetter, A, Gachet, B, Marie, Y, Korenke, GC, Borggraefe, I, Hoffmann-Zacharska, D, Szczepanik, E, Rudzka-Dybala, M, Yis, U, Caglayan, H, Isapof, A, Marey, I, Panagiotakaki, E, Korff, C, Rossier, E, Riess, A, Beck-Woedl, S, Rauch, A, Zweier, C, Hoyer, J, Reis, A, Mironov, M, Bobylova, M, Mukhin, K, Hernandez-Hernandez, L, Maher, B, Sisodiya, S, Kuhn, M, Glaeser, D, Wechuysen, S, Myers, CT, Mefford, HC, Hortnagel, K, Biskup, S, Lemke, JR, Heron, D, Kluger, G & Depienne, C 2016, 'Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy', JOURNAL OF MEDICAL GENETICS , vol. 53, no. 8, pp. 511-522. https://doi.org/10.1136/jmedgenet-2015-103451

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. / Mignot, C; von Stulpnagel, C; Nava, C et al.
In: JOURNAL OF MEDICAL GENETICS , Vol. 53, No. 8, 2016, p. 511-522.

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

TY - JOUR

T1 - Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

AU - Mignot, C

AU - von Stulpnagel, C

AU - Nava, C

AU - Ville, D

AU - Sanlaville, D

AU - Lesca, G

AU - Rastetter, A

AU - Gachet, B

AU - Marie, Y

AU - Korenke, GC

AU - Borggraefe, I

AU - Hoffmann-Zacharska, D

AU - Szczepanik, E

AU - Rudzka-Dybala, M

AU - Yis, U

AU - Caglayan, H

AU - Isapof, A

AU - Marey, I

AU - Panagiotakaki, E

AU - Korff, C

AU - Rossier, E

AU - Riess, A

AU - Beck-Woedl, S

AU - Rauch, A

AU - Zweier, C

AU - Hoyer, J

AU - Reis, A

AU - Mironov, M

AU - Bobylova, M

AU - Mukhin, K

AU - Hernandez-Hernandez, L

AU - Maher, B

AU - Sisodiya, S

AU - Kuhn, M

AU - Glaeser, D

AU - Wechuysen, S

AU - Myers, CT

AU - Mefford, HC

AU - Hortnagel, K

AU - Biskup, S

AU - Lemke, JR

AU - Heron, D

AU - Kluger, Gerhard

AU - Depienne, C

N1 - von Stülpnagel, Kluger: Paracelsus Medical University Salzburg, Austria; CM, CvS, and CN contributed equally

PY - 2016

Y1 - 2016

KW - DE-NOVO MUTATIONS

KW - GTPASE-ACTIVATING PROTEIN

KW - MENTAL-RETARDATION

KW - NMDA RECEPTOR

KW - SYNAPTIC PLASTICITY

KW - SPEECH IMPAIRMENT

KW - SYNGAP1 CAUSE

KW - AUTISM

KW - SEIZURES

KW - HAPLOINSUFFICIENCY

U2 - 10.1136/jmedgenet-2015-103451

DO - 10.1136/jmedgenet-2015-103451

M3 - Original Article

C2 - 26989088

SN - 0022-2593

VL - 53

SP - 511

EP - 522

JO - JOURNAL OF MEDICAL GENETICS

JF - JOURNAL OF MEDICAL GENETICS

IS - 8

ER -

Mignot C, von Stulpnagel C, Nava C, Ville D, Sanlaville D, Lesca G et al. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. JOURNAL OF MEDICAL GENETICS . 2016;53(8):511-522. doi: 10.1136/jmedgenet-2015-103451