Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
Author:
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.
1. Verret S, Steele JC. Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy. Pediatrics. 1971;47:675–80.
2. Bourgeois M, Aicardi J, Goutieres F. Alternating hemiplegia of childhood. J Pediatr. 1993;122:673–9.
3. Mikati MA, Kramer U, Zupanc ML, Shanahan RJ. Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. Pediatr Neurol. 2000;23:134–41.
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.
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