PMC8424967_01
(a) Family pedigree in a novel mutation in KCNT1. The Chinese family includes three affected adults (II: 1, female, 47 years old; III: 1, female, 26 years old, III: 2, male, 17 years old). All subjects (II: 1, III: 1, III: 2) were tested by next generation sequencing. Comparison of the clinical features of the patients with missense mutation at c.2153A>T. (b) The DNA sequencing profile shows the c.2153A>T (p.Asp718Val) mutation in KCNT1. (c) The proband: interictal EEG shows double temporal apical slow waves. (d) The son: ictal EEG examined at 16-year-old. A short EEG seizure discharge begins at the right frontal region. The right anterior temporal, middle temporal, and right sphenoid spike rhythm lasted about 20 s, and then changed to full lead spike rhythm for about 40 s. Paroxysmal clinical manifestations: Sit up suddenly in sleep, lie down 20 s later, and gaze down with excessive movement of torso and proximal limbs, hands flexion and stiff, head left and right wobble, unconsciousness, last for about 48 s, and several similar episodes at night.
j_tnsci-2020-0182-fig001.jpg
PMC8424967_03_j_tnsci-2020-0182-fig001.jpg
j_tnsci-2020-0182_fig_001
This mutation was found in the patient as well as her children (Figure 1a and b).
PMC8424967_02
(a) Family pedigree in a novel mutation in KCNT1. The Chinese family includes three affected adults (II: 1, female, 47 years old; III: 1, female, 26 years old, III: 2, male, 17 years old). All subjects (II: 1, III: 1, III: 2) were tested by next generation sequencing. Comparison of the clinical features of the patients with missense mutation at c.2153A>T. (b) The DNA sequencing profile shows the c.2153A>T (p.Asp718Val) mutation in KCNT1. (c) The proband: interictal EEG shows double temporal apical slow waves. (d) The son: ictal EEG examined at 16-year-old. A short EEG seizure discharge begins at the right frontal region. The right anterior temporal, middle temporal, and right sphenoid spike rhythm lasted about 20 s, and then changed to full lead spike rhythm for about 40 s. Paroxysmal clinical manifestations: Sit up suddenly in sleep, lie down 20 s later, and gaze down with excessive movement of torso and proximal limbs, hands flexion and stiff, head left and right wobble, unconsciousness, last for about 48 s, and several similar episodes at night.
j_tnsci-2020-0182-fig001.jpg
PMC8424967_03_j_tnsci-2020-0182-fig001.jpg
j_tnsci-2020-0182_fig_001
This mutation was found in the patient as well as her children (Figure 1a and b).
PMC8424967_03
(a) Family pedigree in a novel mutation in KCNT1. The Chinese family includes three affected adults (II: 1, female, 47 years old; III: 1, female, 26 years old, III: 2, male, 17 years old). All subjects (II: 1, III: 1, III: 2) were tested by next generation sequencing. Comparison of the clinical features of the patients with missense mutation at c.2153A>T. (b) The DNA sequencing profile shows the c.2153A>T (p.Asp718Val) mutation in KCNT1. (c) The proband: interictal EEG shows double temporal apical slow waves. (d) The son: ictal EEG examined at 16-year-old. A short EEG seizure discharge begins at the right frontal region. The right anterior temporal, middle temporal, and right sphenoid spike rhythm lasted about 20 s, and then changed to full lead spike rhythm for about 40 s. Paroxysmal clinical manifestations: Sit up suddenly in sleep, lie down 20 s later, and gaze down with excessive movement of torso and proximal limbs, hands flexion and stiff, head left and right wobble, unconsciousness, last for about 48 s, and several similar episodes at night.
j_tnsci-2020-0182-fig001.jpg
PMC8424967_03_j_tnsci-2020-0182-fig001.jpg
j_tnsci-2020-0182_fig_001
This mutation was found in the patient as well as her children (Figure 1a and b).