{"id":"e559cac0-16c0-543d-b089-5fb4ab3a90df","stable_key":"0f17db03-207f-5910-ac8e-13dfc2f378ce:cnnm2-variants-neurodevelopment","predicate":"associates-with","statement":"CNNM2 variants in the reported families associated with hypomagnesemia, seizures and developmental impairment.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"positive","is_public":true,"mechanism_event_id":"a82c3225-1058-5bb7-aa35-f7525bb51b9c","mechanism_event_label":"This inherited disorder includes neurological abnormalities alongside low magnesium.","subject":{"id":"163743fe-c965-5b3b-b140-65b9c25a6f15","slug":"cnnm2-pathogenic-variants","display_name":"Pathogenic CNNM2 variants","entity_type_key":"gene"},"object":{"id":"174821af-baca-5c12-b193-047b17a9acd5","slug":"cnnm2-neurodevelopmental-phenotype","display_name":"CNNM2-associated neurodevelopmental phenotype","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"a82c3225-1058-5bb7-aa35-f7525bb51b9c","stable_key":"0f17db03-207f-5910-ac8e-13dfc2f378ce:cnnm2-variants-neurodevelopment-event","event_type":"observed_intervention","label":"This inherited disorder includes neurological abnormalities alongside low magnesium.","description":"CNNM2 variants in the reported families associated with hypomagnesemia, seizures and developmental impairment.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"f98d380e-9285-5154-9e0b-6456f4a434ef","slug":"cnnm2","display_name":"CNNM2","entity_type_key":"protein"},"role":"affected-protein","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"623a99ab-787c-5d78-8072-72cfcd82008e","slug":"serum-magnesium-concentration","display_name":"Serum magnesium concentration","entity_type_key":"cellular_process"},"role":"reduced-endpoint","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"163743fe-c965-5b3b-b140-65b9c25a6f15","slug":"cnnm2-pathogenic-variants","display_name":"Pathogenic CNNM2 variants","entity_type_key":"gene"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"174821af-baca-5c12-b193-047b17a9acd5","slug":"cnnm2-neurodevelopmental-phenotype","display_name":"CNNM2-associated neurodevelopmental phenotype","entity_type_key":"cellular_process"},"role":"object","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence-system","value_text":"Five unrelated families plus functional and zebrafish evidence","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Five unrelated families plus functional and zebrafish evidence","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Neurological features persisted despite supplementation; do not equate the full genetic phenotype with reversible dietary Mg deficiency.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Magnesium research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"magnesium","display_name":"Magnesium","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Human","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"This inherited disorder includes neurological abnormalities alongside low magnesium.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[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","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue","value_text":"Kidney and nervous system","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Kidney and nervous system","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"48098571-7611-5757-915e-1365ba822f06","evidence_kind":"source_excerpt","locator":"Lines 1125-1136","start_line":1125,"end_line":1136,"excerpt":"### cnnm2-variants-neurodevelopment\nCNNM2 variants in the reported families associated with hypomagnesemia, seizures and developmental impairment.\nCondition category: machinery_impairment\nnutrient_topic: Magnesium research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: This inherited disorder includes neurological abnormalities alongside low magnesium.\norganism: Human\ntissue_or_cell_type: Kidney and nervous system\nexperimental_model: Five unrelated families plus functional and zebrafish evidence\nlimitations: Neurological features persisted despite supplementation; do not equate the full genetic phenotype with reversible dietary Mg deficiency.\nevidence-system: Five unrelated families plus functional and zebrafish evidence\ntissue: Kidney and nervous system\n[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","model_system":"Five unrelated families plus functional and zebrafish evidence","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study 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","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"dd101e28-1a2e-5a48-9d1e-809c77514866","stable_key":"import-0f17db03-207f-5910-ac8e-13dfc2f378ce","title":"Magnesium: cross-nutrient mechanisms and deficiency (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text.","file_path":"","sha256":"e111c412f57143a17e8e65e74e8f7888b5bb9a61099873f4767f527fac19bb07","revision_id":"6b7f04f2-66ed-5859-955f-c2b50d4bf041","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}