FIGURE

FIGURE 1

ID

ZDB-FIG-250618-6

Publication

Zhang et al., 2025 - De Novo Variant in GBX1 Gene Associated With Developmental Delay and Focal Epilepsy

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FIGURE 1

The clinical data and GBX1 variant in the patient. A–C. Abnormal EEG. (A) Normal background rhythm with 8–10 Hz α waves in occipitals during wakefulness with eyes closed. High‐amplitude slow wave bursts in the right frontal region and sharp‐slow wave bursts in both occipitals. (B) During sleep, generalized spikes, spike‐slow waves, and polyspike bursts, especially in the left frontal region, with scattered bursts in the right frontal, occipital, and posterior temporal regions. (C) Focal seizures originating from the right frontal region, evolving from slow waves to fast‐wave activity. (D) The pedigree for the family. The patient was highlighted with an arrow with the filled symbol. (E) The schematic diagram for wildtype and p.Gln304* GBX1 protein.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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