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Article

KCNQ2 encephalopathy: A case due to a de novo deletion.

Brain & development - 1 Jan 2018

Spagnoli Carlotta, Salerno Grazia Gabriella, Iodice Alessandro, Frattini Daniele, Pisani Francesco, Fusco Carlo

Abstract excerpt

KCNQ2 encephalopathy is characterized by severely abnormal EEG, neonatal-onset epilepsy and developmental delay. It is caused by mutations (typically missense) in the KCNQ2 gene, encoding the voltage gated potassium channel Kv7.2 and leading to a negative-dominant effect. We present one case experiencing recurrent neonatal seizures with changing hemispheres of origin, reminiscent of epilepsy of infancy with...

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Source

Identifiers

PMID: 28728838
DOI: 10.1016/j.braindev.2017.06.008

Genes

KCNQ2

Variants

Provenance

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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