case_images: PMC7542499_01
case_images: Frequency of focal and generalised seizures since onset at age 19 y in the index patient (1): focal seizure, (2): one generalised seizure, (3): two generalised seizures, (4): three generalised seizures per day).
case_images: CRINM2020-8876272.001.jpg
case_images: PMC7542499_01_CRINM2020-8876272.001.jpg
case_images: fig1
case_images: In addition to generalised seizures, she rarely experienced focal seizures (Figure 1). Seizures had not recurred during 42 months prior to the last follow-up at age 32 y (Figure 1).
case_images: EEG under flickering light at age 24 y showing generalised, bilaterally synchronous spike-wave and polyspike-wave complexes.
case_images: CRINM2020-8876272.002.jpg
case_images: PMC7542499_01_CRINM2020-8876272.002.jpg
case_images: fig2
case_images: Flickering light triggered generalised, bilaterally synchronous spike-wave and polyspike-wave complexes (Figure 2).
case_images: Pedigree of the index patient's family (the "+" indicates that the individual was clinically affected).
case_images: CRINM2020-8876272.003.jpg
case_images: PMC7542499_01_CRINM2020-8876272.003.jpg
case_images: fig3
case_images: The family history was positive for easy fatigability (mother (48 yo), brother (26 yo), great aunt from mother's side), photosensitivity (mother, grandmother from mother's side, 2 great aunts from mother's side, 2 aunts and 1 uncle from mother's side), hand tremor (brother), myocloni (grandmother from mother's side, 2 aunts, 1 uncle, 2 cousins from the mother's side), seizures (1 great aunt from the mother's side, 1 cousin), Parkinsonism (1 great aunt from the mother's side, 1 uncle), ataxia (2 great aunts from the mother's side), and hypothyroidism (mother) (Figure 3).