Whole exome sequencing and co‐expression analysis identify an <i>SCN1A</i> variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus-Reference-Cited by-同舟云学术

Whole exome sequencing and co‐expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus

Published:2022-06-05 Issue:8 Volume:63 Page:1970-1980
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Hammer Michael F.¹²^ORCID,Pan Yanling³,Cumbay Medhane⁴,Pendziwiat Manuela⁵⁶,Afawi Zaid⁷,Goldberg‐Stern Hadassah⁸,Johnstone Laurel²,Helbig Ingo⁶⁹¹⁰¹¹¹²^ORCID,Cummins Theodore R.³^ORCID

Affiliation:

1. BIO5 Institute University of Arizona Tucson Arizona USA

2. University of Arizona Genomics Core (UAGC) University of Arizona Tucson Arizona USA

3. Department of Biology Indiana University‐Purdue University Indianapolis Indianapolis Indiana USA

4. Division of Biomedical Sciences Marian University – College of Osteopathic Medicine Indianapolis Indiana USA

5. Department of Neuropediatrics University Medical Center Schleswig‐Holstein Christian Albrechts University Kiel Germany

6. Institute of Clinical Molecular Biology Christian‐Albrechts‐University of Kiel Kiel Germany

7. Center for Neuroscience Ben‐Gurion University of the Negev Be'er Sheva Israel

8. Epilepsy Unit and EEG Lab Schneider Medical Center Petah Tikv Israel

9. Division of Neurology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

10. The Epilepsy NeuroGenetics Initiative (ENGIN) Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

11. Department of Biomedical and Health Informatics (DBHi) Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

12. Department of Neurology Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

Funder

Institute for Translational Medicine and Therapeutics

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Center for Advancing Translational Sciences

National Institute of Neurological Disorders and Stroke

Hartwell Foundation

Deutsche Forschungsgemeinschaft

Dravet Syndrome Foundation

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.17296

Reference28 articles.

1. Mechanisms for Intragenic Complementation at the Human Argininosuccinate Lyase Locus

2. Historical Development of the Concept of the Gene

3. Broad Phenotypic Heterogeneity due to a Novel SCN1A Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus

4. Clinical spectrum ofSCN1Amutations

5. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

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1. Gain of function SCN1A disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication;Epilepsia;2023-01-26

2. Genetic interaction between Scn8a and potassium channel genes Kcna1 and Kcnq2;Epilepsia;2022-08-11