eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| benign familial neonatal seizures | ||||
| Disease ID | 1935 |
|---|---|
| Disease | benign familial neonatal seizures |
| Definition | Benign familial neonatal seizures (BFNS), formerly called benign familial neonatal convulsions (BFNC), is a rare autosomal dominant inherited form of seizures. It manifests in newborns, normally within the first 7 days of life, as tonic-clonic seizures. Infants are otherwise normal between attacks and develop without incident. Attacks normally spontaneously cease within the first 15 weeks of life. Lifetime susceptibility to seizures is increased, as 16% of those diagnosed with BFNE earlier in life will go on to have seizures versus a 2% lifetime risk for the general population. There are three known genetic causes of BFNE, two being the voltage-gated potassium channels KCNQ2 (BFNC1) and KCNQ3 (BFNC2) and the third being a chromosomal inversion (BFNC3). There is no obvious correlation between most of the known mutations and clinical variability seen in BFNE. - Wikipedia Reference: https://en.wikipedia.org/wiki/benign familial neonatal seizures |
| Synonym | autosomal dominant form of benign neonatal seizures bfnc2 bfns2 convulsions benign familial neonatal dominant form convulsions, benign familial neonatal, 2 epilepsy, benign neonatal, 2 seizures, benign familial neonatal seizures, benign familial neonatal, 2 |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1852581 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1935 |
|---|---|
| Disease | benign familial neonatal seizures |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1935 |
|---|---|
| Disease | benign familial neonatal seizures |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118192247 | NA | 3786 | KCNQ3 | umls:C1852581 | CLINVAR | NA | 0.443800186 | NA | KCNQ3 | 8 | 132175491 | C | T |
| rs118192248 | NA | 3786 | KCNQ3 | umls:C1852581 | CLINVAR | NA | 0.443800186 | NA | KCNQ3 | 8 | 132175472 | T | C |
| rs118192249 | NA | 3786 | KCNQ3 | umls:C1852581 | CLINVAR | NA | 0.443800186 | NA | KCNQ3 | 8 | 132175461 | A | G |
| rs118192250 | NA | 3786 | KCNQ3 | umls:C1852581 | CLINVAR | NA | 0.443800186 | NA | KCNQ3 | 8 | 132175457 | C | A |
| rs118192250 | 16691402 | 3786 | KCNQ3 | umls:C1852581 | BeFree | The same mutation with a comparable localization in the KCNQ3 (G310V) gene has been found in BFNS patients. | 0.443800186 | 2006 | KCNQ3 | 8 | 132175457 | C | A |
| rs118192251 | NA | 3786 | KCNQ3 | umls:C1852581 | CLINVAR | NA | 0.443800186 | NA | KCNQ3 | 8 | 132174295 | G | A |
| rs118192251 | 25524373 | 3786 | KCNQ3 | umls:C1852581 | BeFree | The degree of functional impairment of channels incorporating KCNQ3 R330L subunits was larger than that of channels carrying another KCNQ3 mutation affecting the same codon but leading to a different amino acid substitution (p.R330C), previously identified in two families with typical BFNS. | 0.443800186 | 2014 | KCNQ3 | 8 | 132174295 | G | A |
| rs118192252 | NA | 3786 | KCNQ3 | umls:C1852581 | CLINVAR | NA | 0.443800186 | NA | KCNQ3 | 8 | 132141191 | T | C |
| rs118192254 | NA | 3786 | KCNQ3 | umls:C1852581 | CLINVAR | NA | 0.443800186 | NA | KCNQ3 | 8 | 132129419 | T | C |
| rs74582884 | NA | 3786 | KCNQ3 | umls:C1852581 | CLINVAR | NA | 0.443800186 | NA | KCNQ3 | 8 | 132134369 | G | A,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002266 | Focal clonic seizures | MP:0003996 | clonic seizures | increased number or decreased threshold for the induction of a seizure characterized by unilateral or bilateral rhythmic jerking movements of the arms and legs caused by alternating contraction and relaxation of muscle |
| HP:0002069 | Generalized tonic-clonic seizures | MP:0003997 | tonic-clonic seizures | increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002266 | Focal clonic seizures | MP:0011110 | preweaning lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0002069 | Generalized tonic-clonic seizures | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| Disease ID | 1935 |
|---|---|
| Disease | benign familial neonatal seizures |
| Case | (Waiting for update.) |