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1.
Fig. 3

Fig. 3. Classification framework for epilepsy-related GATOR1 variants.. From: The landscape of epilepsy-related GATOR1 variants.

Pathogenic range: 6 alleles for DEPDC5, 3 alleles for NPRL2, and 4 alleles for NPRL3

Sara Baldassari, et al. Genet Med. 2019;21(2):398-408.

CitationFull text

2.
Fig. 4

Fig. 4. Distribution of the 140 distinct epilepsy-related GATOR1 variants among the 183 probands reported so far.. From: The landscape of epilepsy-related GATOR1 variants.

Percentages and number of probands are indicated for each gene

Sara Baldassari, et al. Genet Med. 2019;21(2):398-408.

CitationFull text

3.
Fig. 1

Fig. 1. Schematic diagram showing the domain/structural organization of DEPDC5, NPRL2, and NPRL3 proteins and the positions of the 140 distinct epilepsy-related variants reported so far according to the 3D-structure of the GATOR1 protein complex.. From: The landscape of epilepsy-related GATOR1 variants.

In the upper panels of each protein are indicated loss-of-function (LoF) variants, while missense and splice-region variants are shown in the bottom part and classified according to our novel proposed framework. Recurrent variants are indicated in blue. VUS variant of uncertain significance

Sara Baldassari, et al. Genet Med. 2019;21(2):398-408.

CitationFull text

4.
Fig. 2

Fig. 2. All 63 distinct GATOR1 variants identified in the new patient cohort.. From: The landscape of epilepsy-related GATOR1 variants.

For missense variants, Mendelian Clinically Applicable Pathogenicity (M-CAP) was used to predict possible pathogenic (D) or possible benign (B) variants. Human Splice Finder (HSF) v3.0 was used to discriminate splice-region variants with a possible impact on the splicing (D) and those not predicted to impact the splicing of mRNA (B). cDNA complementary DNA, VUS variant of uncertain significance, LoF loss of function, N/A not available. Recurrent variants are indicated in blue

Sara Baldassari, et al. Genet Med. 2019;21(2):398-408.

CitationFull text

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