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Article

CCDC88A mutations cause PEHO-like syndrome in humans and mouse.

Brain : a journal of neurology - 1 Apr 2016

Nahorski Michael S, Asai Masato, Wakeling Emma, Parker Alasdair, Asai Naoya, Canham Natalie, Holder Susan E, Chen Ya-Chun, Dyer Joshua, Brady Angela F, Takahashi Masahide, Woods C Geoffrey

Abstract excerpt

Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a rare Mendelian phenotype comprising severe retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal oedema, and early death. Atypical cases are often known as PEHO-like, and there is an overlap with 'early infantile epileptic encephalopathy'. PEHO is considered to be recessive, but surprisingly...

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Identifiers

PMID: 26917597
DOI: 10.1093/brain/aww014
PMCID: PMC4806221

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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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