Fig. 1: Overview of SCN2A variants and associated phenotypic features. | Genetics in Medicine

Fig. 1: Overview of SCN2A variants and associated phenotypic features.

From: Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Fig. 1

(a) The NaV1.2 channel (above) and gene (below), highlighting a selection of recurrent variants. (b) The frequency of phenotypic features within categorized phenotypic subgroups: developmental and epileptic encephalopathy (DEE, n = 255), autism (ASD, n = 60), benign familial neonatal–infantile seizures (BFNIS, n = 53), Other epilepsy (n = 27), and atypical SCN2A-related phenotypes (n = 18). Boxed frequencies indicate the five most frequent Human Phenotype Ontology (HPO) terms within each respective phenotypic subgroup. CNS central nervous system, EEG electroencephalogram, PTV protein-truncating variant.

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