# Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/heterozygous-hnrnpu-variants-cause-early-onset-epilepsy-and-severe-intellectual/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Nuria C. Bramswig,Hermann‐Josef Lüdecke,Fadi F. Hamdan,Janine Altmüller,Filippo Beleggia,Nursel Elçioğlu,Catharine Freyer,Erica H. Gerkes,Yasemin Kendir Demirkol,Kelly G. Knupp,Alma Kuechler,Yun Li,Daniel H. Lowenstein,Jacques L. Michaud,Kristen Park,Alexander P.A. Stegmann,Hermine E. Veenstra‐Knol,Thomas Wieland,Bernd Wollnik,Hartmut Engels,Tim M. Strom,Tjitske Kleefstra,Dagmar Wieczorek |
| Citations | 97 |
| DOI | 10.1007/s00439-017-1795-6 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://link.springer.com/content/pdf/10.1007/s00439-017-1795-6.pdf |
| OpenAlex ID | https://openalex.org/W2604495421 |
| PMID | 28393272 |
| Type | article |
| Year | 2017 |

## Paper authors

- [Kelly G. Knupp](https://scholariq.org/researchers/kelly-g-knupp/)

## Paper primary topic

- [RNA Research and Splicing](https://scholariq.org/topics/rna-research-and-splicing/)

## Paper topics

- [RNA Research and Splicing](https://scholariq.org/topics/rna-research-and-splicing/)
- [RNA and protein synthesis mechanisms](https://scholariq.org/topics/rna-and-protein-synthesis-mechanisms/)
- [RNA modifications and cancer](https://scholariq.org/topics/rna-modifications-and-cancer/)

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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.