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Article

Diagnostic work-up and rehabilitation of cerebral visual impairment in infancy: A case of epileptic perinatal encephalopathy due to KCNQ2-related channelopathy

Journal of pediatric rehabilitation medicine - 4 Jul 2018

Saviola Donatella, Chiari Margherita, Battagliola Erica, Savi Caterina, De Tanti Antonio

Abstract excerpt

BACKGROUND: There is evidence that channelopathies are the cause of many different neurological diseases. The epileptic perinatal encephalopathy due to mutation in the KCNQ2 gene is a rare disease involving severe tetraparesis and cerebral visual impairment. Diseases of this kind are associated with severe disability that involves multiple systems and requires accurate genetic diagnosis and early...

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Source

Identifiers

PMID: 28655139
DOI: 10.3233/PRM-170440-2

Genes

KCNQ2
IMPACT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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