The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population

European journal of human genetics : EJHG

Victoria Smuk, Javier A López-Rivera, Costin Leu, …, Javier A López-Rivera, Costin Leu, Dennis Lal

• DOI: 10.1038/s41431-022-01211-w
• PMID: 36253532
• PMCID: PMC9905533