# Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/ultra-rare-genetic-variation-in-the-epilepsies-a-whole-exome-sequencing-study-of/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Yen‐Chen Anne Feng,Daniel P. Howrigan,Liam Abbott,Katherine Tashman,Felecia Cerrato,Tarjinder Singh,Henrike Heyne,Andrea Byrnes,Claire Churchhouse,Nick Watts,Matthew Solomonson,Dennis Lal,Erin L. Heinzen,Ryan S. Dhindsa,Kate E. Stanley,Gianpiero L. Cavalleri,Håkon Håkonarson,Ingo Helbig,Roland Krause,Patrick May,Sarah Weckhuysen,Slavé Petrovski,Sitharthan Kamalakaran,Sanjay M. Sisodiya,Patrick Cossette,Chris Cotsapas,Peter De Jonghe,Tracy Dixon‐Salazar,Renzo Guerrini,Patrick Kwan,Anthony G Marson,Randy Stewart,Chantal Depondt,Dennis Dlugos,Ingrid E. Scheffer,Pasquale Striano,Catharine Freyer,Kevin E. McKenna,Brigid M. Regan,Susannah T. Bellows,Costin Leu,Caitlin A. Bennett,Esther M.C. Johns,Alexandra MacDonald,Hannah Shilling,Rosemary Burgess,Dorien Weckhuysen,Melanie Bahlo,Terence J. O’Brien,Marian Todaro,Hannah Stamberger,Danielle M. Andrade,Tara Sadoway,Kelly Mo,Heinz Krestel,Sabina Gallati,Savvas Papacostas,Ioanna Kousiappa,George A. Tanteles,Katalin Štěrbová,Markéta Vlčková,Lucie Sedláčková,Petra Laššuthová,Karl Martin Klein,Felix Rosenow,Philipp S. Reif,Susanne Knake,Wolfram S. Kunz,Gábor Zsurka,Christian E. Elger,Jürgen Bauer,Michael Rademacher,Manuela Pendziwiat,Hiltrud Muhle,Annika Rademacher,Andreas van Baalen,Sarah von Spiczak,Ulrich Stephani,Zaid Afawi,Amos D. Korczyn,Moien Kanaan,Christina Canavati,Gerhard Kurlemann,Karen Müller‐Schlüter,Gerhard Kluger,Martin Häusler,Ilan Blatt,Johannes R. Lemke,Ilona Krey,Yvonne Weber,Stefan Wolking,Felicitas Becker,Christian Hengsbach,Sarah Rau,Ana F. Maisch,Bernhard J. Steinhoff,Andreas Schulze‐Bonhage,Susanne Schubert‐Bast,Herbert Schreiber,Ingo Borggräfe |
| Citations | 309 |
| DOI | 10.1016/j.ajhg.2019.05.020 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929719302071/pdf |
| OpenAlex ID | https://openalex.org/W2960399794 |
| PMID | 31327507 |
| Type | article |
| Year | 2019 |

## Paper authors

- [Ingrid E. Scheffer](https://scholariq.org/researchers/ingrid-e-scheffer/)
- [Renzo Guerrini](https://scholariq.org/researchers/renzo-guerrini/)
- [Susanne Schubert‐Bast](https://scholariq.org/researchers/susanne-schubert-bast/)
- [Betül Baykan](https://scholariq.org/researchers/betul-baykan/)
- [Nerses Bebek](https://scholariq.org/researchers/nerses-bebek/)

## Paper primary topic

- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)

## Paper topics

- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Epilepsy research and treatment](https://scholariq.org/topics/epilepsy-research-and-treatment/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.