Version of Record
Letter to the Editors
Published online: 2025-02-26
Family report of Birk-Barel syndrome — a neurodevelopmental channelopathy with epigenetic signature
DOI: 10.5603/pjnns.104700
Pubmed: 40008859
Abstract
Not available
Keywords: Birk-Barel syndromeKCNK9 geneimprinting disorderschannelopathy
References
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- Graham JM, Zadeh N, Kelley M, et al. KCNK9 imprinting syndrome-further delineation of a possible treatable disorder. Am J Med Genet A. 2016; 170(10): 2632–2637.
- Ramirez-Arenalde MA, Bruckman-Blanco WJ, Frontanes-Heredia A, et al. An Extremely Rare Case of Birk-Barel Syndrome With Severe Central Apneas. Cureus. 2021; 13(6): e15862.
- Šedivá M, Laššuthová P, Zámečník J, et al. Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome. Eur J Med Genet. 2020; 63(1): 103619.
