• A case of PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome: changes in clinical and neuroradiological findings
• A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family
• A patient with hydranencephaly and PEHO-like dysmorphic features
• A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome
• CCDC88A mutations cause PEHO-like syndrome in humans and mouse
• Cerebellar hypoplasias
• Clinical and genetic features of PEHO and PEHO-Like syndromes: A scoping review
• Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome
• De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome
• Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype
• Diagnostic criteria and genetics of the PEHO syndrome
• Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay
• Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome
• Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?
• Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter
• Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome)
• Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
• Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A
• Infantile cerebello-optic atrophy. Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome)
• Insulin-Like Growth Factors in the Pathogenesis of Neurological Diseases in Children
• Low insulin-like growth factor (IGF-1) in the cerebrospinal fluid of children with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome and cerebellar degeneration
• Markedly elevated nitrate/nitrite levels in the cerebrospinal fluid of children with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)
• May PEHO Syndrome be a Clinical Entity Associated with Early Onset Encephalopathies?
• Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes
• PEHO and PEHO-like syndromes: report of five Australian cases
• PEHO or PEHO-like syndrome?
• PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings
• PEHO syndrome (progressive encephalopathy, edema, hypsarrhythmia. optic atrophy)
• PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene
• PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies
• PEHO syndrome: a study of five Argentinian patients
• PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complex
• PEHO syndrome: the endpoint of different genetic epilepsies
• Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described
• Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes
• Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child
• Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)
• Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)
• Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in a Turkish child
• Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings
• Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy and PEHO-like syndrome: Report of two cases
• Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining?
• Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO syndrome). A case report
• Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome
• Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders
• Serial MR imaging, diffusion tensor imaging, and MR spectroscopic findings in a child with progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome
• Serial MRI in a child with PEHO syndrome
• Sex-dependent behavior, neuropeptide profile and antidepressant response in rat model of depression
• Studies of mutations of assembly factor Hit1 in budding yeast suggest translation defects as the molecular basis for PEHO syndrome
• The PEHO syndrome
• The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders
• ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss