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Article

A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.

American journal of medical genetics. Part A - 1 Nov 2021

Rydzanicz Małgorzata, Zwoliński Piotr, Gasperowicz Piotr, Pollak Agnieszka, Kostrzewa Grażyna, Walczak Anna, Konarzewska Magdalena, Płoski Rafał

Abstract excerpt

Developmental and epileptic encephalopathies (DEE) are a heterogenous group of conditions characterized by the co-occurrence of epilepsy and intellectual/developmental disability. Despite several known DEE-related genes, including these encoding ion channels, still many cases remain without molecular diagnosis. Here, we present a 2-year-old girl with severe DEE in whom whole exome sequencing revealed de novo...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 34448338
DOI: 10.1002/ajmg.a.62455

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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