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

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

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

Case Report: A male newborn with occipital horn syndrome.

Case Report: A male newborn with occipital horn syndrome.

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

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

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

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

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

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

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

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

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

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

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.

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

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

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

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

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

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

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

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