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A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy

Luigi Vetri, Francesco Calı̀, Mirella Vinci, Carmelo Amato, Michele Roccella, Tiziana Granata, Elena Freri, Roberta Solazzi, Valentino Romano, Maurizio Elia

2020European Journal of Medical Genetics35 citationsDOI

Topics & Concepts

EpilepsyExome sequencingGeneticsGeneMutationBiologyExomeEncephalopathyMedicineNeuroscienceInternal medicineIon channel regulation and functionCardiac electrophysiology and arrhythmiasEpilepsy research and treatment
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy | Litcius