article_metadata: Artem Sharkov Peter Sparber Anna Stepanova Denis Pyankov Sergei Korostelev Mikhail Skoblov
article_metadata: 10.3389/fgene.2022.888481
article_metadata: Front Genet
article_metadata: 2022 May 31;13:888481.
article_metadata: dravet syndrome kabuki syndrome scn2a deep phenotyping functional analysis
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/35711923/
article_metadata: Case Reports
article_metadata: PMC9194094
article_metadata: 35711923
article_metadata: Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene
article_metadata: 2022