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. Author manuscript; available in PMC: 2021 Feb 1.
Published in final edited form as: Seizure. 2019 Dec 13;75:1–6. doi: 10.1016/j.seizure.2019.12.009

Fig 2: Epilepsy and comorbidity demographics of children with Dravet syndrome with SCN1A missense vs truncating variants.

Fig 2:

Missense variant data are displayed in green while truncation variant data are displayed in purple. (a) Seizure onset was not significantly different between patients with missense variants (n=47, mean= 5.7mos, STD =2.6) or truncating variants (n=65, mean=5.4mos, STD=2.1). (b) Percentage of children with missense variants experiencing GTCs (100%), alternating hemiconvulsions (78%), myoclonic seizures (72%), atypical absence (44%), and other focal seizures (52%) was similar to children with truncating variants (100% GTCs, 67% M, 66% AH, 58% AA, 53% OF). (c) Status epilepticus, reported as convulsive, non-convulsive, or both, was not different between SCN1A variant type. (d) Graded comorbid psychiatric impairment, cognitive impairment, or motor impairment was not different between SCN1A variant type. Top line (green) represents patients with missense variants, while bottom line (purple) represents patients with truncating variants.