Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants.
Federica MalerbaGiulio AlberiniGanna BalaguraFrancesca MarcheseElisabetta AmadoriAntonella RivaMaria Stella VariElena GennaroFrancesca MadiaVincenzo SalpietroMarco AngrimanLucio GiordanoPatrizia AccorsiMarina TrivisanoNicola SpecchioAngelo RussoGiuseppe GobbiFederico RaviglioneTiziana PisanoCarla MariniMaria M MancardiLino NobiliElena FreriBarbara CastellottiGiuseppe CapovillaAntonietta CoppolaAlberto VerrottiPaola MartelliFrancesco MiceliLuca MaraglianoFabio BenfenatiMaria R CilioKatrine Marie JohannesenRikke Steensjerre MollerBerten CeulemansCarlo MinettiSarah WeckhuysenFederico ZaraMaurizio TaglialatelaPasquale StrianoPublished in: Neurology. Genetics (2020)
We highlight the complexity of variant interpretation to assess the impact of a class of de novo KCNQ2 mutations. Genetic modifiers could be implicated, but the study paradigms to successfully address the impact of each single mutation need to be developed.
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