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Clinical and genetic data. (A) Electroencephalographic (EEG) of a proband with epilepsy of infancy with migrating focal seizures (EIMFS; patient A), showing seizures arising from different hemispheres (left: left occipital lobe; right: right frontal lobe). (B) Sanger <t>sequencing</t> showing (red arrow) nonsense variant p.K564* (NM_198503.2:c.1690A>T) in KCNT2 in the proband (patient A) and not in the parents. (C) Sanger sequencing showing (red arrow) frameshift variant p.L48Qfs43 (NM_198503.2:c.143-144 delTA) in KCNT2 in the proband (patient B) and not in the parents.
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WuXi NextCODE clinical sequence analyzer (csa) user interface
Clinical and genetic data. (A) Electroencephalographic (EEG) of a proband with epilepsy of infancy with migrating focal seizures (EIMFS; patient A), showing seizures arising from different hemispheres (left: left occipital lobe; right: right frontal lobe). (B) Sanger <t>sequencing</t> showing (red arrow) nonsense variant p.K564* (NM_198503.2:c.1690A>T) in KCNT2 in the proband (patient A) and not in the parents. (C) Sanger sequencing showing (red arrow) frameshift variant p.L48Qfs43 (NM_198503.2:c.143-144 delTA) in KCNT2 in the proband (patient B) and not in the parents.
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Inhibition kinetics of different FVIII monoclonal antibodies at different concentrations (concentration‐related study). Different FVIII monoclonal antibodies (4A4, BO2C11, 2‐54, ESH‐8) were diluted and mixed with a consistent amount of FVIII (neat: 1 μg/ml); after incubation, the FVIII residual activity was measured using an OSA (A) and CSA (B). CSA, chromogenic substrate assay; FVIII, factor VIII; OSA, one‐stage clotting assay.

Journal: Research and Practice in Thrombosis and Haemostasis

Article Title: Impact of different factor VIII inhibitor kinetic profiles on the inhibitor titer quantification using the modified Nijmegen–Bethesda assay

doi: 10.1002/rth2.12799

Figure Lengend Snippet: Inhibition kinetics of different FVIII monoclonal antibodies at different concentrations (concentration‐related study). Different FVIII monoclonal antibodies (4A4, BO2C11, 2‐54, ESH‐8) were diluted and mixed with a consistent amount of FVIII (neat: 1 μg/ml); after incubation, the FVIII residual activity was measured using an OSA (A) and CSA (B). CSA, chromogenic substrate assay; FVIII, factor VIII; OSA, one‐stage clotting assay.

Article Snippet: For the time‐related study, the reaction was stopped by shock freezing at −80°C after 0, 5, 10, 15, 30, 60, 90, 120, and 180 min. After thawing, FVIII residual activities were immediately measured using the OSA (Roche Diagnostics International Ltd) and CSA (Technoclone Herstellung von Diagnostika und Arzneimitteln GmbH).

Techniques: Inhibition, Bioprocessing, Concentration Assay, Incubation, Activity Assay, Coagulation

Inhibition kinetics of different FVIII monoclonal antibodies by time course (time‐related study). Different monoclonal FVIII antibodies (4A4, BO2C11, 2‐54, ESH‐8) were diluted and mixed with a consistent amount of FVIII. The inhibition reaction was stopped at different time points and the FVIII residual activity was measured using an OSA (A–D) and CSA (A, B, and D). CSA, chromogenic substrate assay; FVIII, factor VIII; OSA, one‐stage clotting assay.

Journal: Research and Practice in Thrombosis and Haemostasis

Article Title: Impact of different factor VIII inhibitor kinetic profiles on the inhibitor titer quantification using the modified Nijmegen–Bethesda assay

doi: 10.1002/rth2.12799

Figure Lengend Snippet: Inhibition kinetics of different FVIII monoclonal antibodies by time course (time‐related study). Different monoclonal FVIII antibodies (4A4, BO2C11, 2‐54, ESH‐8) were diluted and mixed with a consistent amount of FVIII. The inhibition reaction was stopped at different time points and the FVIII residual activity was measured using an OSA (A–D) and CSA (A, B, and D). CSA, chromogenic substrate assay; FVIII, factor VIII; OSA, one‐stage clotting assay.

Article Snippet: For the time‐related study, the reaction was stopped by shock freezing at −80°C after 0, 5, 10, 15, 30, 60, 90, 120, and 180 min. After thawing, FVIII residual activities were immediately measured using the OSA (Roche Diagnostics International Ltd) and CSA (Technoclone Herstellung von Diagnostika und Arzneimitteln GmbH).

Techniques: Inhibition, Bioprocessing, Activity Assay, Coagulation

Clinical and genetic data. (A) Electroencephalographic (EEG) of a proband with epilepsy of infancy with migrating focal seizures (EIMFS; patient A), showing seizures arising from different hemispheres (left: left occipital lobe; right: right frontal lobe). (B) Sanger sequencing showing (red arrow) nonsense variant p.K564* (NM_198503.2:c.1690A>T) in KCNT2 in the proband (patient A) and not in the parents. (C) Sanger sequencing showing (red arrow) frameshift variant p.L48Qfs43 (NM_198503.2:c.143-144 delTA) in KCNT2 in the proband (patient B) and not in the parents.

Journal: Frontiers in Cellular Neuroscience

Article Title: The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric K Na 1.1/K Na 1.2 Potassium Channel

doi: 10.3389/fncel.2020.00001

Figure Lengend Snippet: Clinical and genetic data. (A) Electroencephalographic (EEG) of a proband with epilepsy of infancy with migrating focal seizures (EIMFS; patient A), showing seizures arising from different hemispheres (left: left occipital lobe; right: right frontal lobe). (B) Sanger sequencing showing (red arrow) nonsense variant p.K564* (NM_198503.2:c.1690A>T) in KCNT2 in the proband (patient A) and not in the parents. (C) Sanger sequencing showing (red arrow) frameshift variant p.L48Qfs43 (NM_198503.2:c.143-144 delTA) in KCNT2 in the proband (patient B) and not in the parents.

Article Snippet: DNA from patient A were screened by WES and analyzed by Clinical Sequencing Analyzer (CSA of WuXiNextCODE).

Techniques: Sequencing, Variant Assay