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

Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.

JAMA neurology - 1 Jun 2014

Holder J Lloyd, Agadi Satish, Reese William, Rehder Catherine, Quach Michael M

Abstract excerpt

IMPORTANCE: Isolated sulfite oxidase deficiency (ISOD) causes severe intellectual disability, epilepsy, and shortened life expectancy. Intractable seizures are invariable in children with ISOD; however, to our knowledge, infantile spasms with a corresponding hypsarrhythmia pattern on electroencephalogram have never been reported. In addition, the nonepileptic paroxysmal movement disorder hyperekplexia has not...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Metabolism, Inborn Errors
Share to Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Magnetic Resonance Imaging

Share to Mutation

Share to Oxidoreductases Acting on Sulfur Group Donors

Share to Seizures

Share to Spasms, Infantile

Source

Identifiers

PMID: 24756183
DOI: 10.1001/jamaneurol.2013.5083

Genes

SUOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.PMID 24756183Read ↗

Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature reviewSemantic proximity Read ↗

Severe isolated sulfide oxidase deficiency with a novel mutation.Semantic proximity Read ↗

Clinical, neuroimaging, and genetic analysis of isolated sulfite oxidase deficiency in Chinese neonates: A case series and literature reviewSemantic proximity Read ↗

Isolated sulfite oxidase deficiency.Semantic proximity Read ↗

Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency and literature reviewSemantic proximity Read ↗

Prenatal brain disruption in isolated sulfite oxidase deficiency.Semantic proximity Read ↗

Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.Semantic proximity Read ↗

Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency.Semantic proximity Read ↗

Whole exome sequencing identified novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiencySemantic proximity Read ↗

A novel mutation in neonatal isolated sulphite oxidase deficiency.Semantic proximity Read ↗

Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency.Semantic proximity Read ↗

Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review.Semantic proximity Read ↗

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