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

Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations.

The Journal of pediatrics - 1 Mar 2005

Raizen David M, Brooks-Kayal Amy, Steinkrauss Linda, Tennekoon Gihan I, Stanley Charles A, Kelly Andrea

Abstract excerpt

OBJECTIVE: To describe seizure phenotypes associated with the hyperinsulinism/hyperammonemia syndrome (HI/HA), which is caused by gain of function mutations in the enzyme glutamate dehydrogenase (GDH). STUDY DESIGN: A retrospective review of records of 14 patients with HI/HA. RESULTS: Nine patients had seizures as the first symptom of HI/HA, and six had seizures in the absence of hypoglycemia. No...

Read the complete abstract on PubMed

Topics

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

Share to Blood Glucose
Share to Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy, Generalized

Share to Glutamate Dehydrogenase

Share to Hyperammonemia

Share to Hyperinsulinism

Share to Hypoglycemia

Share to Seizures

Source

Identifiers

PMID: 15756227
DOI: 10.1016/j.jpeds.2004.10.040

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 · 12 closest

Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations.PMID 15756227Read ↗

Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase.Semantic proximity Read ↗

Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome.Semantic proximity Read ↗

Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment.Semantic proximity Read ↗

Neurological aspects of hyperinsulinism-hyperammonaemia syndrome.Semantic proximity Read ↗

Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.Semantic proximity Read ↗

Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene.Semantic proximity Read ↗

Spectrum of glutamate dehydrogenase mutations in Japanese patients with congenital hyperinsulinism and hyperammonemia syndrome.Semantic proximity Read ↗

A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA).Semantic proximity Read ↗

Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report.Semantic proximity Read ↗

Hyperinsulinism hyperammonaemia (HI/HA) syndrome due to GLUD1 mutation: phenotypic variations ranging from late presentation to spontaneous resolution.Semantic proximity Read ↗

Glutamate Dehydrogenase as a Promising Target for Hyperinsulinism Hyperammonemia Syndrome Therapy.Semantic proximity Read ↗

A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase.Semantic proximity Read ↗

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