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Published online: 2025-02-26

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Family report of Birk-Barel syndrome — a neurodevelopmental channelopathy with epigenetic signature

Dorota Piekutowska-Abramczuk1, Maria Jędrzejowska12, Elżbieta Ciara1, Dorota Jurkiewicz1, Paulina Halat-Wolska1, Marlena Młynek1, Krystyna Chrzanowska1, Rafał Płoski3, Agnieszka Madej-Pilarczyk1

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References

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  2. Barel O, Shalev SA, Ofir R, et al. Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. Am J Hum Genet. 2008; 83(2): 193–199.
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  4. 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.
  5. 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.