Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 1
1993 3
1995 1
1996 1
1999 1
2000 1
2001 1
2002 1
2003 4
2004 1
2005 1
2006 2
2009 1
2010 1
2011 2
2015 1
2016 3
2017 1
2018 2
2019 3
2020 3
2021 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

31 results

Results by year

Filters applied: . Clear all
Page 1
Clinical and genetic features of PEHO and PEHO-Like syndromes: A scoping review.
Sabaie H, Ahangar NK, Ghafouri-Fard S, Taheri M, Rezazadeh M. Sabaie H, et al. Biomed Pharmacother. 2020 Nov;131:110793. doi: 10.1016/j.biopha.2020.110793. Epub 2020 Sep 29. Biomed Pharmacother. 2020. PMID: 33152950 Free article. Review.
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is a genetic neurological condition characterized by extreme cerebellar atrophy. PEHO-Like syndrome is comparable to PEHO syndrome, with the exception that there i …
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is a genetic neurological condition c …
CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
Nahorski MS, Asai M, Wakeling E, Parker A, Asai N, Canham N, Holder SE, Chen YC, Dyer J, Brady AF, Takahashi M, Woods CG. Nahorski MS, et al. Brain. 2016 Apr;139(Pt 4):1036-44. doi: 10.1093/brain/aww014. Epub 2016 Feb 25. Brain. 2016. PMID: 26917597 Free PMC article.
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. ...
Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a rare Mendelian phenotype compris …
PEHO syndrome: the endpoint of different genetic epilepsies.
Chitre M, Nahorski MS, Stouffer K, Dunning-Davies B, Houston H, Wakeling EL, Brady AF, Zuberi SM, Suri M, Parker APJ, Woods CG. Chitre M, et al. J Med Genet. 2018 Dec;55(12):803-813. doi: 10.1136/jmedgenet-2018-105288. Epub 2018 Oct 4. J Med Genet. 2018. PMID: 30287594
However, the aetiology is poorly understood, and the genetic basis of the condition has not been fully elucidated. Our objective was to discover if PEHO syndrome is a single gene disorder. METHOD: Children with PEHO and PEHO-like syndrome were recruited. ...
However, the aetiology is poorly understood, and the genetic basis of the condition has not been fully elucidated. Our objective was to disc …
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.
Õunap K, Muru K, Õiglane-Shlik E, Ilves P, Pajusalu S, Kuus I, Wojcik MH, Reimand T. Õunap K, et al. Eur J Med Genet. 2020 Feb;63(2):103660. doi: 10.1016/j.ejmg.2019.04.017. Epub 2019 Apr 29. Eur J Med Genet. 2020. PMID: 31048081 Free PMC article.
PEHO syndrome is characterized by Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy, which was first described in Finnish patients. ...It has therefore been suggested that PEHO syndrome caused by ZNHIT3 variants does not occur ou …
PEHO syndrome is characterized by Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy, which was first de …
Diagnostic criteria and genetics of the PEHO syndrome.
Somer M. Somer M. J Med Genet. 1993 Nov;30(11):932-6. doi: 10.1136/jmg.30.11.932. J Med Genet. 1993. PMID: 8301648 Free PMC article.
The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy) is a recently recognised disorder of unknown biochemical background. ...In combined neuroradiological and ophthalmological studies, 10 out of 21 possible PEHO patients fulf …
The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy) is a recently recognised disorde …
PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings.
Somer M, Salonen O, Pihko H, Norio R. Somer M, et al. AJNR Am J Neuroradiol. 1993 Jul-Aug;14(4):861-7. AJNR Am J Neuroradiol. 1993. PMID: 8352158 Free PMC article.
METHODS: Brain CT or MR studies were performed on 21 patients with the clinical PEHO syndrome. Their previous neuroradiologic studies were re-evaluated. ...Two autopsied group A patients were compatible with the true PEHO syndrome, while one group B pa …
METHODS: Brain CT or MR studies were performed on 21 patients with the clinical PEHO syndrome. Their previous neuroradiologic …
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.
Gawlinski P, Posmyk R, Gambin T, Sielicka D, Chorazy M, Nowakowska B, Jhangiani SN, Muzny DM, Bekiesinska-Figatowska M, Bal J, Boerwinkle E, Gibbs RA, Lupski JR, Wiszniewski W. Gawlinski P, et al. Pediatr Neurol. 2016 Jul;60:83-7. doi: 10.1016/j.pediatrneurol.2016.03.011. Epub 2016 Apr 9. Pediatr Neurol. 2016. PMID: 27343026 Free PMC article.
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 …
BACKGROUND: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a distinct neurodevelop …
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.
Nevanlinna V, Konovalova S, Ceulemans B, Muona M, Laari A, Hilander T, Gorski K, Valanne L, Anttonen AK, Tyynismaa H, Courage C, Lehesjoki AE. Nevanlinna V, et al. Eur J Med Genet. 2020 Mar;63(3):103766. doi: 10.1016/j.ejmg.2019.103766. Epub 2019 Sep 16. Eur J Med Genet. 2020. PMID: 31536827
Pontocerebellar hypoplasia type 6 (PCH6) is a rare infantile-onset progressive encephalopathy caused by biallelic mutations in RARS2 that encodes the mitochondrial arginine-tRNA synthetase enzyme (mtArgRS). The clinical presentation overlaps that of PEHO syndrome (P …
Pontocerebellar hypoplasia type 6 (PCH6) is a rare infantile-onset progressive encephalopathy caused by biallelic mutations in RARS2 that en …
PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complex.
Samanta D, Gokden M. Samanta D, et al. J Clin Neurosci. 2019 Mar;61:298-301. doi: 10.1016/j.jocn.2018.10.091. Epub 2018 Oct 29. J Clin Neurosci. 2019. PMID: 30385166
We report a child with hypotonia, optic atrophy, progressive encephalopathy and intractable infantile spasms who was diagnosed with PEHO syndrome. Extensive investigation was performed to diagnose an underlying etiology. ...The relation between this genetic mutation …
We report a child with hypotonia, optic atrophy, progressive encephalopathy and intractable infantile spasms who was diagnosed with PEHO …
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.
Riikonen R, Somer M, Turpeinen U. Riikonen R, et al. Epilepsia. 1999 Nov;40(11):1642-8. doi: 10.1111/j.1528-1157.1999.tb02051.x. Epilepsia. 1999. PMID: 10565594 Free article.
PURPOSE: In patients with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome, the pathophysiology underlying early progressive cerebellar and brainstem degeneration and severe epilepsy is unknown. ...RESULTS: Patients with PEHO s …
PURPOSE: In patients with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome, the pathophysiology u …
31 results