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LGI1 and developmental delay are reported together in 3 articles.

Gene

LGI1

9articles

9mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

480articles

480mentions

12co-reported genes shown

Most co-reported genes (articles)

Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.

3 records shown · first 60

PMID 40455867 | PMCID PMC12493049 | DOI 10.1093/brain/awaf202 · Brain : a journal of neurology · 2025 · 8 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	LGI1	“Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“Affected individuals presented DEE with neonatal/infantile-onset epilepsy (n = 6/6), global developmental delay/intellectual disability (n = 6/6) and infant/premature death (n = 5/6).”	0.98	phenotype_alias_lexicon_v2
gene	ADAM23	“Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.”	0.98	hgnc_dict_v1
gene	ADAM22	“LGI1 is a secreted neuronal protein, functions as a ligand for ADAM22/23, and regulates excitatory synaptic transmission and neuronal excitability in the brain.”	0.98	hgnc_dict_v1

PMID 35948005 | PMCID PMC9502070 | DOI 10.1016/j.ajhg.2022.07.006 · American journal of human genetics · 2022 · 8 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	LGI1	“LGI1 antibodies are detected in subjects with autoimmune limbic encephalitis and peripheral nerve hyperexcitability syndromes (PNHSs) such as Isaacs and Morvan syndromes.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“Deep phenotypic characterization showed LGI3 LoF causes a potentially clinically recognizable PNHS trait characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability.”	0.98	phenotype_alias_lexicon_v2
gene	LGI4	“Pathogenic variations of LGI1 and LGI4 are associated with neurological disorders as disease traits including familial temporal lobe epilepsy and neurogenic arthrogryposis multiplex congenita 1 with myelin defects, respectively.”	0.98	hgnc_dict_v1
gene	LGI2	“No human disease has been reported associated with either LGI2 or LGI3.”	0.98	hgnc_dict_v1

PMID 35373813 | PMCID PMC9337806 | DOI 10.1093/brain/awac116 · Brain : a journal of neurology · 2022 · 5 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	LGI1	“Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 (LGI1), have been recently associated with recessive developmental and epileptic encephalopathy.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“Additional clinical features included moderate to profound global developmental delay/intellectual disability (20/20), hypotonia (12/20) and delayed motor development (19/20).”	0.98	phenotype_alias_lexicon_v2
gene	ADAM22	“Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.”	0.98	hgnc_dict_v1
phenotype	epilepsy	“Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.”	0.98	phenotype_alias_lexicon_v2