Individual differences in vulnerability to disease are a defining feature of biology and are especially prominent in mood disorders, where susceptibility to stress varies markedly across individuals. Strikingly, such individuality also emerges in inbred mice despite genetic homogeneity and controlled environments, sugg...
Fabio Grieco, Marta Vilademunt, Maryam Ali et al.· bioRxiv· 0 citations
Somatic variants are a prominent cause of epilepsy-associated cortical malformations, but about half of patients undergoing genetic testing have no finding due partly to limitations in variant detection. Most studies have focused on single-nucleotide variants or small indels that are accessible to short-read sequencing...
Anthony R. Miller, James J. Anderson, Maria E. Hernandez Gonzalez et al.· Genome Research· 0 citations
The use of an adenine base editor (ABE) to directly correct SCN1AR613X, a recurrent variant found in patients with DS, suggests the therapeutic potential of prime editing for the treatment of patients with SCN1A-associated GEFS+.
Samantha A Dow, Tracy A. Bedrosian· Epilepsy Currents· 0 citations
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