PEHO Syndrome Latest Advances

New ZNHIT3 Variants Disrupting snoRNP Assembly Cause Prenatal PEHO Syndrome with Isolated Hydrops.

Journal: medRxiv : the preprint server for health sciences

Published: September 10, 2024

A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants.

Journal: Italian journal of pediatrics

Published: March 18, 2024

Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.

Journal: American journal of medical genetics. Part A

Published: May 30, 2023

Studies of mutations of assembly factor Hit1 in budding yeast suggest translation defects as the molecular basis for PEHO syndrome.

Journal: The Journal of biological chemistry

Published: May 09, 2022

Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A.

Journal: Brain & development

Published: April 08, 2021

Clinical and genetic features of PEHO and PEHO-Like syndromes: A scoping review.

Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie

Published: July 08, 2020

May PEHO Syndrome be a Clinical Entity Associated with Early Onset Encephalopathies?

Journal: Annals of Indian Academy of Neurology

Published: June 15, 2019

PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.

Journal: European journal of medical genetics

Published: March 12, 2019

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.

Journal: European journal of medical genetics

Published: December 21, 2018

PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complex.

Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia

Published: September 19, 2018

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

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: April 05, 2018

PEHO syndrome: the endpoint of different genetic epilepsies.

Journal: Journal of medical genetics

Published: February 20, 2018