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De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Published in:
2022
By:
- Manivannan, Sathiya N;
- Roovers, Jolien;
- Smal, Noor;
- Myers, Candace T;
- Turkdogan, Dilsad;
- Roelens, Filip;
- Kanca, Oguz;
- Chung, Hyung-Lok;
- Scholz, Tasja;
- Hermann, Katharina;
- Bierhals, Tatjana;
- Caglayan, Hande S;
- Stamberger, Hannah;
- Consortium, MAE Working Group of EuroEPINOMICS RES;
- Mefford, Heather;
- Jonghe, Peter de;
- Yamamoto, Shinya;
- Weckhuysen, Sarah;
- Bellen, Hugo J;
- MAE Working Group of EuroEPINOMICS RES Consortium
Publication type:
journal article
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0106-7
By:
- Steward, Charles A.;
- Roovers, Jolien;
- Suner, Marie-Marthe;
- Gonzalez, Jose M.;
- Uszczynska-Ratajczak, Barbara;
- Pervouchine, Dmitri;
- Fitzgerald, Stephen;
- Viola, Margarida;
- Stamberger, Hannah;
- Hamdan, Fadi F.;
- Ceulemans, Berten;
- Leroy, Patricia;
- Nava, Caroline;
- Lepine, Anne;
- Tapanari, Electra;
- Keiller, Don;
- Abbs, Stephen;
- Sanchis-Juan, Alba;
- Grozeva, Detelina;
- Rogers, Anthony S.
Publication type:
Article
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
Published in:
NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0106-7
By:
- Steward, Charles A.;
- Roovers, Jolien;
- Suner, Marie-Marthe;
- Gonzalez, Jose M.;
- Uszczynska-Ratajczak, Barbara;
- Pervouchine, Dmitri;
- Fitzgerald, Stephen;
- Viola, Margarida;
- Stamberger, Hannah;
- Hamdan, Fadi F.;
- Ceulemans, Berten;
- Leroy, Patricia;
- Nava, Caroline;
- Lepine, Anne;
- Tapanari, Electra;
- Keiller, Don;
- Abbs, Stephen;
- Sanchis-Juan, Alba;
- Grozeva, Detelina;
- Rogers, Anthony S.
Publication type:
Article
Brain volumetric alterations accompanied with loss of striatal medium-sized spiny neurons and cortical parvalbumin expressing interneurons in Brd1<sup>+/−</sup> mice.
Published in:
Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34729-5
By:
- Qvist, Per;
- Eskildsen, Simon F.;
- Hansen, Brian;
- Baragji, Mohammad;
- Ringgaard, Steffen;
- Roovers, Jolien;
- Paternoster, Veerle;
- Molgaard, Simon;
- Corydon, Thomas Juhl;
- Stødkilde-Jørgensen, Hans;
- Glerup, Simon;
- Mors, Ole;
- Wegener, Gregers;
- Nyengaard, Jens R.;
- Børglum, Anders D.;
- Christensen, Jane H.
Publication type:
Article

Found: 4

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.

Brain volumetric alterations accompanied with loss of striatal medium-sized spiny neurons and cortical parvalbumin expressing interneurons in Brd1<sup>+/−</sup> mice.