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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.

PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.

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

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

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

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

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

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

PEHO syndrome: the endpoint of different genetic epilepsies.

PEHO syndrome: the endpoint of different genetic epilepsies.