Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene-Reference-Cited by-同舟云学术

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene

Published:2023-12-14 Issue: Volume: Page:
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Panagiotakaki Eleni,Tiziano Francesco D.,Mikati Mohamad A.,Vijfhuizen Lisanne S.,Nicole Sophie,Lesca Gaetan^ORCID,Abiusi Emanuela^ORCID,Novelli Agnese,Di Pietro Lorena,Harder Aster V. E.^ORCID,Walley Nicole M.,De Grandis Elisa,Poulat Anne-Lise,Portes Vincent Des,Lépine Anne,Nassogne Marie-Cecile^ORCID,Arzimanoglou Alexis^ORCID,Vavassori Rosaria^ORCID,Koenderink Jan,Thompson Christopher H.,George Alfred L.,Gurrieri Fiorella,van den Maagdenberg Arn M. J. M.^ORCID,Heinzen Erin L.^ORCID, ,

Funder

Cure AHC

AISEA

AFM-Telethon, AFHA

U.S. Department of Health & Human Services | National Institutes of Health

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-023-01489-4.pdf

Reference30 articles.

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4. Sweney MT, Silver K, Gerard-Blanluet M, Pedespan JM, Renault F, Arzimanoglou A, et al. Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome. Pediatrics. 2009;123:e534–41.

5. Panagiotakaki E, Doummar D, Nogue E, Nagot N, Lesca G, Riant F, et al. Movement disorders in patients with alternating hemiplegia: “Soft” and “stiff” at the same time. Neurology. 2020;94:e1378–85.