Occipital Horn Syndrome Latest Advances

Novel ATP7A Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.

Journal: Genes

Published: July 30, 2025

Case Report: A male newborn with occipital horn syndrome.

Journal: F1000Research

Published: October 25, 2024

Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome.

Journal: Journal of medical genetics

Published: April 18, 2024

Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.

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

Published: January 01, 2024

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.

Journal: European journal of medical genetics

Published: September 23, 2023

Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant.

Journal: Journal of inherited metabolic disease

Published: March 08, 2023

ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.

Journal: Journal of inherited metabolic disease

Published: November 28, 2022

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.

Journal: Pediatric neurology

Published: November 09, 2020

Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15.

Journal: Frontiers in molecular neuroscience

Published: October 14, 2020

The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.

Journal: Neurobiology of disease

Published: July 24, 2020

ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.

Journal: Computational and structural biotechnology journal

Published: June 26, 2020

ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.

Journal: European journal of medical genetics

Published: March 10, 2020