PMC9636542_01
Case 1. (A) Family pedigree of case 1. Solid black represents a family member with epilepsy. (B) Picture of abdomen showed skin jaundice with dark rashes. (C) Cranial CT showed a deepening of the cerebral sulci. (D) Abdomen CT indicated fullness of the liver and spleen.
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Furthermore, the brother died of epilepsy at the age of 15 years (Fig. 1A). Physical examination found that the girl was lethargic, with generalized skin and scleral jaundice and a patchy, dark red rash (Fig. 1B) but no hepatomegaly or splenomegaly. CT indicated fullness of the liver and spleen with normal CT values (Fig. 1D). Cranial CT showed a deepening of the cerebral and cerebellar sulci (Fig. 1C).
PMC9636542_02
Case 2. (A) Family pedigree of case 2. (B) Sanger sequencing confirmed a de novo heterozygous variant c.971A > C (p.His324Pro) of the SCN1A gene. (C) Axial, FLAIR brain MRI showed postoperative gliosis around the resected lesion in the left frontal lobe. (D) Electroencephalogram showed interictal epileptiform discharges predominantly in right temporal and frontal leads.
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He had mild mental and motor retardation, no history of allergies, and no relevant family history (Fig. 2A). Brain MRI showed postoperative gliosis around the resected lesion in the left frontal lobe (Fig. 2C). Electroencephalogram recorded slowed background activity and epileptiform discharges predominantly in the right temporal and frontal leads (Fig. 2D). A gene panel testing for epilepsy identified a de novo heterozygous variant c.971A > C (p.His324Pro) of SCN1A, which was interpreted as likely pathogenic (Fig. 2B).