eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| benign familial neonatal epilepsy | ||||
| Disease ID | 1001 |
|---|---|
| Disease | benign familial neonatal epilepsy |
| Synonym | benign familial infantile convulsions benign familial infantile convulsions syndrome benign familial neonatal convulsions benign familial neonatal infantile seizures benign familial neonatal-infantile seizures benign infantile familial convulsions benign neonatal epilepsy benign neonatal familial convulsions benign neonatal familial convulsions (disorder) benign neonatal-infantile epilepsies benign neonatal-infantile epilepsy bfic1 bfis1 bfnc - benign familial neonatal convulsions convulsions benign familial neonatal convulsions, benign familial infantile, 1 convulsions, benign neonatal, familial epilepsies, benign neonatal-infantile epilepsy, benign neonatal infantile epilepsy, benign neonatal, familial epilepsy, benign neonatal-infantile familial benign neonatal convulsions familial benign neonatal epilepsy familial neonatal epilepsy familial neonatal seizures familial neonatal seizures (disorder) neonatal-infantile epilepsies, benign neonatal-infantile epilepsy, benign seizures, benign familial infantile, 1 seizures, benign familial neonatal infantile seizures, benign familial neonatal-infantile |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0220669 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:4) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1001 |
|---|---|
| Disease | benign familial neonatal epilepsy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1001 |
|---|---|
| Disease | benign familial neonatal 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:12) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118192193 | 18006581 | 3785 | KCNQ2 | umls:C0220669 | BeFree | Here we identified a novel BFNC-causing mutation (E119G) in the S1-S2 region of KV7.2. | 0.135743629 | 2008 | KCNQ2;LOC105372720 | 20 | 63446778 | T | C |
| rs118192207 | 18246739 | 3785 | KCNQ2 | umls:C0220669 | BeFree | A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC). | 0.135743629 | 2007 | KCNQ2 | 20 | 63442449 | T | C |
| rs118192247 | 18625963 | 3785 | KCNQ2 | umls:C0270851 | BeFree | An in-frame deletion of codon 116 in KCNQ2 (p.Lys116del) and a missense mutation in KCNQ3 (p.Glu299Lys) were detected in two index cases exhibiting rolandic epilepsy and benign neonatal convulsions. | 0.125438769 | 2008 | KCNQ3 | 8 | 132175491 | C | T |
| rs118192247 | 18625963 | 3786 | KCNQ3 | umls:C0270851 | BeFree | An in-frame deletion of codon 116 in KCNQ2 (p.Lys116del) and a missense mutation in KCNQ3 (p.Glu299Lys) were detected in two index cases exhibiting rolandic epilepsy and benign neonatal convulsions. | 0.000814326 | 2008 | KCNQ3 | 8 | 132175491 | C | T |
| rs118192249 | 19167866 | 3786 | KCNQ3 | umls:C0220669 | BeFree | Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC). | 0.12868614 | 2009 | KCNQ3 | 8 | 132175461 | A | G |
| rs118192249 | 19167866 | 3785 | KCNQ2 | umls:C0220669 | BeFree | We found a lack of potassium current in W309R mutant KCNQ3 and KCNQ2 channels, which can explain the hyper-excitability of CNS in patients with BFNC. | 0.135743629 | 2009 | KCNQ3 | 8 | 132175461 | A | G |
| rs121917750 | 17467289 | 6326 | SCN2A | umls:C0220669 | BeFree | We analyzed neonatal and adult splice forms of NaV1.2 with a BFNIS mutation (L1563V) in human embryonic kidney cells. | 0.004071628 | 2007 | SCN2A | 2 | 165386881 | C | G |
| rs28939683 | 24586341 | 3785 | KCNQ2 | umls:C0220669 | BeFree | To demonstrate the functionality of the kick-in methodology, we generated two mouse lines with separate mutant versions of the voltage-dependent potassium channel Kv7.2 (Kcnq2): p.Tyr284Cys (Y284C) and p.Ala306Thr (A306T); both variations have been associated with benign familial neonatal epilepsy. | 0.135743629 | 2014 | KCNQ2 | 20 | 63439674 | T | C |
| rs28939684 | 11784811 | 3785 | KCNQ2 | umls:C0220669 | BeFree | Here we show that KCNQ2/KCNQ3 channels carrying a novel BFNC-causing mutation leading to an arginine to tryptophan substitution in the voltage-sensing S4 domain of KCNQ2 subunits (R214W) displayed slower opening and faster closing kinetics and a decreased voltage sensitivity with no concomitant changes in maximal current or plasma membrane expression. | 0.135743629 | 2002 | KCNQ2 | 20 | 63444709 | G | A |
| rs28939684 | 11784811 | 3786 | KCNQ3 | umls:C0220669 | BeFree | Here we show that KCNQ2/KCNQ3 channels carrying a novel BFNC-causing mutation leading to an arginine to tryptophan substitution in the voltage-sensing S4 domain of KCNQ2 subunits (R214W) displayed slower opening and faster closing kinetics and a decreased voltage sensitivity with no concomitant changes in maximal current or plasma membrane expression. | 0.12868614 | 2002 | KCNQ2 | 20 | 63444709 | G | A |
| rs74315390 | 24586341 | 3785 | KCNQ2 | umls:C0220669 | BeFree | To demonstrate the functionality of the kick-in methodology, we generated two mouse lines with separate mutant versions of the voltage-dependent potassium channel Kv7.2 (Kcnq2): p.Tyr284Cys (Y284C) and p.Ala306Thr (A306T); both variations have been associated with benign familial neonatal epilepsy. | 0.135743629 | 2014 | KCNQ2 | 20 | 63439609 | C | T |
| rs74315391 | 11572947 | 3785 | KCNQ2 | umls:C0220669 | BeFree | We propose that a difference in firing patterns between motoneurons and central neurons, combined with the drastically slowed voltage activation of the R207W mutant, explains why this particular KCNQ2 mutant causes myokymia in addition to BFNC. | 0.135743629 | 2001 | KCNQ2 | 20 | 63444730 | 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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001276 | Hypertonia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| Disease ID | 1001 |
|---|---|
| Disease | benign familial neonatal epilepsy |
| Case | (Waiting for update.) |