HIGHLIGHTS
- who: Qiongxiang Zhai and Yonghong Yi from the Massachusetts Institute Technology, United States University, Russia have published the research work: ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities, in the Journal: (JOURNAL)
- future: Functional studies are required to determine the impacts of the variants on these functional domains and their roles in epileptogenesis.
SUMMARY
Recent studies have identified ultra-rare ADGRV1 missense variants in patients with myoclonic epilepsy, FS, genetic generalized epilepsy, and atypical Rolandic epilepsy (Myers et_al, 2018; Han et_al, 2020 . . .
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