Component
Pathogenic CNNM2 variants
CNNM2 variants identified in the cited human families; not equivalent to low dietary magnesium.
1 recorded relationships. Experimental role, claim status and evidence remain attached to each record.
How nutrients influence it
Every nutrient with a recorded effect on this component, credited to the nutrient that acted rather than the chapter that recorded it. Open a nutrient to see the findings and the conditions they were measured under.
Other things that act on it
Enzymes, hormones, genes, and other components with a recorded effect. These are not nutrients, so they do not count toward the arrows above. Each finding names the chapter that recorded it.
How nutrients reach it in more than one step
Chains of two or more recorded steps that end here, grouped by the nutrient they start from. Each step is a separate finding, so a chain is a route a mechanism could take, not proof that it does.
Tracing routes…
What it does
Every recorded relationship this component is part of, grouped by its role. Plain wording comes first; the technical statement follows.
What it acts on
CNNM2 variants in the reported families associated with hypomagnesemia, seizures and developmental impairment.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence-system
- Five unrelated families plus functional and zebrafish evidence
- experimental_model
- Five unrelated families plus functional and zebrafish evidence
- limitations
- Neurological features persisted despite supplementation; do not equate the full genetic phenotype with reversible dietary Mg deficiency.
- nutrient_topic
- Magnesium research collection; topical membership is not evidence of a direct dietary effect. · Magnesium
- organism
- Human
- plain_language
- This inherited disorder includes neurological abnormalities alongside low magnesium.
- primary_references
- [arjona-2014-cnnm2] CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia (2014). https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1004267 DOI: 10.1371/journal.pgen.1004267
- tissue
- Kidney and nervous system
- tissue_or_cell_type
- Kidney and nervous system
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Magnesium: cross-nutrient mechanisms and deficiency (2026-09-17) · lines 1125–1136
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Five unrelated families plus functional and zebrafish evidence · source_derived_draft · unverified_draft
### cnnm2-variants-neurodevelopment CNNM2 variants in the reported families associated with hypomagnesemia, seizures and developmental impairment. Condition category: machinery_impairment nutrient_topic: Magnesium research collection; topical membership is not evidence of a direct dietary effect. plain_language: This inherited disorder includes neurological abnormalities alongside low magnesium. organism: Human tissue_or_cell_type: Kidney and nervous system experimental_model: Five unrelated families plus functional and zebrafish evidence limitations: Neurological features persisted despite supplementation; do not equate the full genetic phenotype with reversible dietary Mg deficiency. evidence-system: Five unrelated families plus functional and zebrafish evidence tissue: Kidney and nervous system [arjona-2014-cnnm2] CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia (2014). https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1004267 DOI: 10.1371/journal.pgen.1004267
Complete structured claim and evidence
The events it takes part in
A mechanism often involves more than two components. These are the full events, with every participant and its role.
Situations it appears in
Low-supply and faulty-machinery situations recorded in the chapters where this component plays a part.
In the sources
Preserved passages that mention this component, quoted exactly. Open one to read it in context.
Open hypotheses
Proposed ideas that involve this component. They are labeled as hypotheses and do not change any recorded statement.
This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.