Article
Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants.
Heart rhythm - 1 Jul 2018
Gray Belinda, Hasdemir Can, Ingles Jodie, Aiba Takeshi, Makita Naomasa, Probst Vincent, Wilde Arthur A M, Newbury-Ecob Ruth, Sheppard Mary N, Semsarian Christopher, Sy Raymond W, Behr Elijah R
Abstract excerpt
BACKGROUND: There is limited evidence that Brugada Syndrome (BrS) is due to SCN1B variants (BrS5). This gene may be inappropriately included in routine genetic testing panels for BrS or Sudden Arrhythmic Death Syndrome (SADS). OBJECTIVE: We sought to characterize the genotype-phenotype correlation in families who had BrS and SADS with reportedly pathogenic SCN1B variants and to review their pathogenicity....
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