FIGURE

Figure 1

ID

ZDB-FIG-200406-49

Publication

Guo et al., 2020 - A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity

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Figure 1

Rare variants in KIF1A detected in a family and KIF1A are conserved across species. (A) Rare mutation in KIF1A detected in a family. (B) Electroencephalogram (EEG) of the proband (III2) showing generalized sharp waves. (C) The analysis of sequences of affected girl (III2), affected mother (II3), and unaffected father (II4). (D) The amino acids coded by variation are conserved across species as showing in the boxed. The last column shows identity with the human protein. The gray boxes highlight the amino acids mentioned in the manuscript.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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