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Article

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

Pediatric neurology - 1 Jul 2016

Gawlinski Pawel, Posmyk Renata, Gambin Tomasz, Sielicka Danuta, Chorazy Monika, Nowakowska Beata, Jhangiani Shalini N, Muzny Donna M, Bekiesinska-Figatowska Monika, Bal Jerzy, Boerwinkle Eric, Gibbs Richard A, Lupski James R, Wiszniewski Wojciech

Abstract excerpt

BACKGROUND: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a distinct neurodevelopmental disorder. Patients without optic nerve atrophy and brain imaging abnormalities but fulfilling other PEHO criteria are often described as a PEHO-like syndrome. The molecular bases of both clinically defined conditions remain unknown in spite of the widespread application of genome...

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Source

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Identifiers

PMID: 27343026
DOI: 10.1016/j.pediatrneurol.2016.03.011
PMCID: PMC5125779

Genes

CDKL5
GNAO1
HESX1

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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