# De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/de-novo-atp1a3-and-compound-heterozygous-nlrp3-mutations-in-a-child-with-autism/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Alcy Torres,Catherine A. Brownstein,Sahil Tembulkar,Kelsey Graber,Casie A. Genetti,Robin J. Kleiman,Kathleen J. Sweadner,Chrystal F. Mavros,Kevin X. Liu,Niklas Smedemark-Margulies,Kiran Maski,Edward Yang,Pankaj B. Agrawal,Jiahai Shi,Alan H. Beggs,Eugene J. D’Angelo,Sarah Hope Lincoln,Devon Carroll,Fatma Dedeoğlu,William A. Gahl,Catherine M. Biggs,Kathryn J. Swoboda,Gerard T. Berry,Joseph Gonzalez–Heydrich |
| Citations | 19 |
| DOI | 10.1016/j.ymgmr.2018.06.001 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | gold |
| OA URL | https://www.sciencedirect.com/science/article/pii/S2214426918300648/pdf |
| OpenAlex ID | https://openalex.org/W2808326396 |
| PMID | 29922587 |
| Type | article |
| Year | 2018 |

## Paper authors

- [Devon Carroll](https://scholariq.org/researchers/devon-carroll/)

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

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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.