Modifier genes in SCN1A ‐related epilepsy syndromes-Reference-Cited by-同舟云学术

Modifier genes in SCN1A ‐related epilepsy syndromes

Published:2020-02-07 Issue:4 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

de Lange Iris M.¹^ORCID,Mulder Flip¹,Slot Ruben¹,Sonsma Anja C. M.¹,Kempen Marjan J. A.¹,Nijman Isaac J.¹,Ernst Robert F.¹,Knoers Nine V. A. M.¹²,Brilstra Eva H.¹,Koeleman Bobby P. C.¹

Affiliation:

1. Department of Genetics Center for Molecular Medicine University Medical Center Utrecht Utrecht The Netherlands

2. Department of Genetics University Medical Center Groningen Groningen The Netherlands

Funder

Stichting Vrienden WKZ

Dutch Epilepsy Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1103

Reference58 articles.

1. A long-term follow-up study of Dravet syndrome up to adulthood

2. Barrett J. Buxbaum J. Cutle D. Daly M. Devlin B. Gratten J. …Wray N.(2017).New mutations old statistical challenges Based. BioRxiv.

3. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome

4. Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome

5. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

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