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

Mignot C, von Stülpnagel 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-Dybała M, Yiş U, Çağlayan 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, Weckhuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S, EuroEPINOMICS-RES MAE working group, Lemke JR, Héron D, Kluger G, Depienne C

Open source

DOI
10.1136/jmedgenet-2015-103451
Published
2016 Aug
Container
Journal of medical genetics
Publisher
Not recorded
Open access
unknown

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BibTeX

@article{allodium:10.1136/jmedgenet-2015-103451,
  title = {Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.},
  author = {Mignot C and von Stülpnagel C and Nava C and Ville D and Sanlaville D and Lesca G and Rastetter A and Gachet B and Marie Y and Korenke GC and Borggraefe I and Hoffmann-Zacharska D and Szczepanik E and Rudzka-Dybała M and Yiş U and Çağlayan H and Isapof A and Marey I and Panagiotakaki E and Korff C and Rossier E and Riess A and Beck-Woedl S and Rauch A and Zweier C and Hoyer J and Reis A and Mironov M and Bobylova M and Mukhin K and Hernandez-Hernandez L and Maher B and Sisodiya S and Kuhn M and Glaeser D and Weckhuysen S and Myers CT and Mefford HC and Hörtnagel K and Biskup S and EuroEPINOMICS-RES MAE working group and Lemke JR and Héron D and Kluger G and Depienne C},
  year = {2016},
  journal = {Journal of medical genetics},
  doi = {10.1136/jmedgenet-2015-103451},
  url = {https://doi.org/10.1136/jmedgenet-2015-103451}
}

RIS

TY  - JOUR
TI  - Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
AU  - Mignot C
AU  - von Stülpnagel 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-Dybała M
AU  - Yiş U
AU  - Çağlayan 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  - Weckhuysen S
AU  - Myers CT
AU  - Mefford HC
AU  - Hörtnagel K
AU  - Biskup S
AU  - EuroEPINOMICS-RES MAE working group
AU  - Lemke JR
AU  - Héron D
AU  - Kluger G
AU  - Depienne C
PY  - 2016
JO  - Journal of medical genetics
DO  - 10.1136/jmedgenet-2015-103451
UR  - https://doi.org/10.1136/jmedgenet-2015-103451
ER  - 

APA

C, M., C, V. S., C, N., D, V., D, S., G, L., A, R., B, G., Y, M., GC, K., I, B., D, H., E, S., M, R., U, Y., H, Ç., A, I., I, M., E, P., C, K., E, R., A, R., S, B., A, R., C, Z., J, H., A, R., M, M., M, B., K, M., L, H., B, M., S, S., M, K., D, G., S, W., CT, M., HC, M., K, H., S, B., group, E. M. W., JR, L., D, H., G, K., & C, D. (2016). Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.. Journal of medical genetics. https://doi.org/10.1136/jmedgenet-2015-103451

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