eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| autosomal dominant nocturnal frontal lobe epilepsy | ||||
| Disease ID | 1857 |
|---|---|
| Disease | autosomal dominant nocturnal frontal lobe epilepsy |
| Definition | Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an epileptic disorder that causes frequent violent seizures during sleep. These seizures often involve complex motor movements, such as hand clenching, arm raising/lowering, and knee bending. Vocalizations such as shouting, moaning, or crying are also common. ADNFLE is often misdiagnosed as nightmares. Attacks often occur in clusters and typically first manifest in childhood. There are four known loci for ADNFLE, three with known causative genes. These genes, CHRNA4, CHRNB2, and CHRNA2, encode various nicotinic acetylcholine receptor α and β subunits. - Wikipedia Reference: https://en.wikipedia.org/wiki/autosomal dominant nocturnal frontal lobe epilepsy |
| Synonym | adnfle adnfle - autosomal dominant nocturnal frontal lobe epilepsy autosomal dominant nocturnal frontal lobe epilepsy (disorder) |
| Orphanet | |
| UMLS | C3696898 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:22) 56244 | BTNL2 | 1.883 | DISEASES 1135 | CHRNA2 | 6.571 | DISEASES 1137 | CHRNA4 | 6.759 | DISEASES 1139 | CHRNA7 | 3.395 | DISEASES 1141 | CHRNB2 | 7.208 | DISEASES 9681 | DEPDC5 | 4.755 | DISEASES 114327 | EFHC1 | 3.304 | DISEASES 7957 | EPM2A | 1.62 | DISEASES 2566 | GABRG2 | 2.063 | DISEASES 3476 | IGBP1 | 3.064 | DISEASES 3736 | KCNA1 | 1.837 | DISEASES 3785 | KCNQ2 | 4.246 | DISEASES 3786 | KCNQ3 | 4.749 | DISEASES 57582 | KCNT1 | 5.768 | DISEASES 9211 | LGI1 | 3.814 | DISEASES 114614 | MIR155HG | 1.661 | DISEASES 378884 | NHLRC1 | 1.883 | DISEASES 112476 | PRRT2 | 2.524 | DISEASES 6324 | SCN1B | 3.057 | DISEASES 6560 | SLC12A4 | 3.081 | DISEASES 57468 | SLC12A5 | 1.875 | DISEASES 7444 | VRK2 | 2.893 | DISEASES |
| Locus | Symbol | Locus(Total Locus:6) |
| Disease ID | 1857 |
|---|---|
| Disease | autosomal dominant nocturnal frontal lobe epilepsy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1857 |
|---|---|
| Disease | autosomal dominant nocturnal frontal lobe epilepsy |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs281865071 | 18534914 | 1141 | CHRNB2 | umls:C3696898 | BeFree | Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. | 0.004614512 | 2008 | CHRNB2 | 1 | 154571759 | C | G |
| rs28931591 | 12887446 | 1137 | CHRNA4 | umls:C3696898 | BeFree | Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. | 0.011129117 | 2003 | CHRNA4 | 20 | 63350560 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1857 |
|---|---|
| Disease | autosomal dominant nocturnal frontal lobe epilepsy |
| Case | (Waiting for update.) |