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BIOMARKER:

ANK2 mutation

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Other names: ANK2, Ankyrin 2, CFAP87, FAP87, Non-Erythroid Ankyrin, Ankyrin 2, Neuronal, Ankyrin-2, ANK-2, LQT4, Long (Electrocardiographic) QT Syndrome 4, Ankyrin-2, Nonerythrocytic, Ankyrin, Brain, Brain Ankyrin, Ankyrin B, Ankyrin-B, Brank-2, ANKB
Entrez ID:
Related biomarkers:
3years
Epilepsy gene prickle ensures neuropil glial ensheathment through regulating cell adhesion molecules. (PubMed, iScience)
Therefore, our findings indicate that Prickle ensures neuron-glial interaction within neuropils through regulating cell adhesion between neurons and ensheathing glia. Dysregulation of this process may represent a conserved pathogenic mechanism underlying PRICKLE1-associated epilepsy.
Journal
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ANK2 (Ankyrin 2)
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ANK2 mutation