# De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/de-novo-mutations-in-atp1a3-cause-alternating-hemiplegia-of-childhood/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Erin L. Heinzen,Kathryn J. Swoboda,Yuki Hitomi,Fiorella Gurrieri,Sophie Nicole,Boukje de Vries,Francesco Danilo Tiziano,Bertrand Fontaine,Nicole M Walley,Sinéad B. Heavin,Eleni Panagiotakaki,Sophie Nicole,Fiorella Gurrieri,Giovanni Neri,Boukje de Vries,Stephany C Koelewijn,Jessica T. Kamphorst,Marije A. Geilenkirchen,Nadine Pelzer,Laura Laan,Joost Haan,Michel D. Ferrari,Arn van den Maagdenberg,Claudio Zucca,Maria Teresa Bassi,F Franchini,Rosaria Vavassori,Melania Giannotta,Giuseppe Gobbi,Tiziana Granata,Nardo Nardocci,Elisa De Grandis,E. Veneselli,Michela Stagnaro,Fiorella Gurrieri,Giovanni Neri,Federico Vigevano,Eleni Panagiotakaki,Claudia Oechsler,Alexis Arzimanoglou,Sophie Nicole,Melania Giannotta,Giuseppe Gobbi,Miriam Ninan,Brian Neville,Friedrich Ebinger,Carmen Fons,Jaume Campistol,David Kemlink,Soňa Nevšímalová,Laura Laan,Cacha Peeters‐Scholte,Arn van den Maagdenberg,Paul Casaer,Giorgio Casari,Guenter Sange,Georg Spiel,Filippo Martinelli Boneschi,Claudio Zucca,Maria Teresa Bassi,Tsveta Schyns,Francis P. Crawley,Dominique Poncelin,Rosaria Vavassori,Stefania Fiori,Emanuela Abiusi,Lorena Di Pietro,Matthew Sweney,Tara Newcomb,Louis Viollet,Chad D. Huff,Lynn B. Jorde,Sandra P. Reyna,Kelley J. Murphy,Kevin V. Shianna,Curtis Gumbs,Latasha Little,Kenneth Silver,Louis J. Ptáček,Joost Haan,Michel D. Ferrari,Ann M Bye,Geoffrey Herkes,Charlotte M Whitelaw,David Webb,Bryan J. Lynch,Peter Uldall,Mary D. King,Ingrid E. Scheffer,Giovanni Neri,Alexis Arzimanoglou,Arn M. J. M. van den Maagdenberg,Sanjay M. Sisodiya,Mohamad A. Mikati,David B. Goldstein |
| Citations | 425 |
| DOI | 10.1038/ng.2358 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | green |
| OA URL | http://hdl.handle.net/2434/533451 |
| OpenAlex ID | https://openalex.org/W2132608119 |
| PMID | 22842232 |
| Type | article |
| Year | 2012 |

## Paper authors

- [Soňa Nevšímalová](https://scholariq.org/researchers/sona-nevsimalova/)
- [Ingrid E. Scheffer](https://scholariq.org/researchers/ingrid-e-scheffer/)

## Paper primary topic

- [Ion Transport and Channel Regulation](https://scholariq.org/topics/ion-transport-and-channel-regulation/)

## Paper topics

- [Ion Transport and Channel Regulation](https://scholariq.org/topics/ion-transport-and-channel-regulation/)
- [Drug Transport and Resistance Mechanisms](https://scholariq.org/topics/drug-transport-and-resistance-mechanisms/)
- [Renal and related cancers](https://scholariq.org/topics/renal-and-related-cancers/)

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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.