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Items: 1 to 20 of 98

1.

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.

J Med Genet. 2018 Dec;55(12):803-813. doi: 10.1136/jmedgenet-2018-105288. Epub 2018 Oct 4.

PMID:
30287594
2.

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.

Pediatr Neurol. 2016 Jul;60:83-7. doi: 10.1016/j.pediatrneurol.2016.03.011. Epub 2016 Apr 9.

3.

Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes.

Hady-Cohen R, Ben-Pazi H, Adir V, Yosovich K, Blumkin L, Lerman-Sagie T, Lev D.

Eur J Paediatr Neurol. 2018 Nov;22(6):1133-1138. doi: 10.1016/j.ejpn.2018.07.003. Epub 2018 Jul 26.

PMID:
30100179
4.

A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family.

Abdulkareem AA, Abulnaja KO, Jan MM, Karim S, Rasool M, Ansari SA, Chaudhary AG, Al-Qahtani MH, Naseer MI.

Neurol Sci. 2019 Feb;40(2):299-303. doi: 10.1007/s10072-018-3626-5. Epub 2018 Nov 3.

PMID:
30392057
5.

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.

Eur J Med Genet. 2019 Sep 16:103766. doi: 10.1016/j.ejmg.2019.103766. [Epub ahead of print]

PMID:
31536827
6.

Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining?

D'Arrigo S, Grazia BM, Faravelli F, Riva D, Pantaleoni C.

J Child Neurol. 2005 May;20(5):454-6.

PMID:
15968934
7.

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.

Brain. 2016 Apr;139(Pt 4):1036-44. doi: 10.1093/brain/aww014. Epub 2016 Feb 25.

8.

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.

Eur J Med Genet. 2019 Apr 29. pii: S1769-7212(19)30178-8. doi: 10.1016/j.ejmg.2019.04.017. [Epub ahead of print]

PMID:
31048081
9.

Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome.

Longman C, Tolmie J, McWilliam R, MacLennan A.

Clin Dysmorphol. 2003 Apr;12(2):133-6.

PMID:
12868478
10.

Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome.

Vanhatalo S, Somer M, Barth PG.

Neuropediatrics. 2002 Apr;33(2):100-4.

PMID:
12075493
11.

A patient with hydranencephaly and PEHO-like dysmorphic features.

Goizet C, Espil-Taris C, Husson M, Chateil JF, Pedespan JM, Lacombe D.

Ann Genet. 2003 Jan-Mar;46(1):25-8.

PMID:
12818526
13.

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

Langlois S, Tarailo-Graovac M, Sayson B, Drögemöller B, Swenerton A, Ross CJ, Wasserman WW, van Karnebeek CD.

Eur J Hum Genet. 2016 Jun;24(6):949-53. doi: 10.1038/ejhg.2015.217. Epub 2015 Oct 21. Review.

14.

[Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO syndrome). A case report].

Nieto-Barrera M, Nieto-Jiménez M, Díaz-Fernandez F, Campaña-Marchal C, Candau Fernández-Mensaque R.

Rev Neurol. 2003 Jun 1-15;36(11):1044-6. Spanish.

16.

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

Anttonen AK, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE.

Brain. 2017 May 1;140(5):1267-1279. doi: 10.1093/brain/awx040.

PMID:
28335020
17.

PEHO and PEHO-like syndromes: report of five Australian cases.

Field MJ, Grattan-Smith P, Piper SM, Thompson EM, Haan EA, Edwards M, James S, Wilkinson I, Adès LC.

Am J Med Genet A. 2003 Sep 15;122A(1):6-12.

PMID:
12949965
19.

PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings.

Somer M, Salonen O, Pihko H, Norio R.

AJNR Am J Neuroradiol. 1993 Jul-Aug;14(4):861-7.

PMID:
8352158
20.

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child.

Klein A, Schmitt B, Boltshauser E.

Eur J Paediatr Neurol. 2004;8(6):317-21.

PMID:
15542387

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