Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.

Journal of inherited metabolic disease - 1 Oct 2010

Kaler Stephen G, Liew Clarissa J, Donsante Anthony, Hicks Julia D, Sato Susumu, Greenfield Jacquelyn C

Abstract excerpt

Epilepsy is a major feature of Menkes disease, an X-linked recessive infantile neurodegenerative disorder caused by mutations in ATP7A, which produces a copper-transporting ATPase. Three prior surveys indicated clinical seizures and electroencephalographic (EEG) abnormalities in a combined 27 of 29 (93%) symptomatic Menkes disease patients diagnosed at 2 months of age or older. To assess the influence of earlier,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Electroencephalography
Share to Copper

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Copper-Transporting ATPases

Share to Dietary Supplements

Share to Early Diagnosis

Share to Injections, Subcutaneous

Share to Maryland

Share to Menkes Kinky Hair Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 20652413
DOI: 10.1007/s10545-010-9118-2
PMCID: PMC3113468

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 10 closest

Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.PMID 20652413Read ↗

Menkes disease and infantile epilepsy.Semantic proximity Read ↗

Neonatal diagnosis and treatment of Menkes disease.Semantic proximity Read ↗

Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.Semantic proximity Read ↗

Intravenous AAV9- ATP7A plus subcutaneous copper histidinate optimizes outcomes in a lethal Menkes disease mouse modelSemantic proximity Read ↗

Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion.Semantic proximity Read ↗

Autonomous requirements of the Menkes disease protein in the nervous system.Semantic proximity Read ↗

Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review.Semantic proximity Read ↗

Early copper therapy in classic Menkes disease patients with a novel splicing mutation.Semantic proximity Read ↗

In utero copper treatment for Menkes disease associated with a severe ATP7A mutation.Semantic proximity Read ↗

Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.