Fig. 4 | npj Genomic Medicine

Fig. 4

From: Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Fig. 4

Variants in coding regions are associated with DS. a Pedigrees and Sanger sequencing traces of the two families with a de novo SCN1A variant in the identified poison exons. b The two transcripts containing the variants, relative to the full-length transcript. Red exons are coding, white exons are non-coding. c Variants are predicted to disrupt a hnRNP A1 recognition site.

Back to article page