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Article

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

European journal of human genetics : EJHG - 1 Jun 2016

Langlois Sylvie, Tarailo-Graovac Maja, Sayson Bryan, Drögemöller Britt, Swenerton Anne, Ross Colin Jd, Wasserman Wyeth W, van Karnebeek Clara Dm

Abstract excerpt

PEHO syndrome (OMIM no. 260565) is characterized by myoclonic jerking and infantile spasms, profound psychomotor retardation with the absence of motor milestones and speech, absence or early loss of visual fixation with atrophy of optic discs by 2 years of age and progressive brain atrophy on neuroimaging. We describe the results of a genomic study of a girl with PEHO syndrome and review the literature on cases...

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Identifiers

PMID: 26486474
DOI: 10.1038/ejhg.2015.217
PMCID: PMC4867456

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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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