HIGHLIGHTS
- who: Gu00e9za Berecki from the University of Melbourne, Parkville, VIC, Australia have published the article: Functional correlates of clinical phenotype and severity in recurrent SCN2A variants, in the Journal: (JOURNAL) of 29/Oct/2021
- what: Discussion This clinical and functional characterization of recurrent SCN2A variants addresses prerequisite physiological insights for targeted therapeutics: how do the authors determine biophysical impact and predict outcome severity? The authors show that the genotype-phenotype correlation is improved by using an additional criterion such that the early-infantile phenotypic group was defined as including individuals with seizure onset prior to . . .
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