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ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities

23 Jun 2022

Abstract excerpt

Objective ADGRV1 gene encodes adhesion G protein-coupled receptor-V1 that is involved in synaptic function. ADGRV1 mutations are associated with audio-visual disorders. Although previous experimental studies suggested that ADGRV1 variants were associated with epilepsy, clinical evidence is limited and the phenotype spectrum is to be defined. Methods Trio-based targeting sequencing was performed in a cohort of 101...

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PMID: 35813073
DOI: 10.3389/fnmol.2022.864074

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