eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| rolandic epilepsy | ||||
| Disease ID | 919 |
|---|---|
| Disease | rolandic epilepsy |
| Definition | An autosomal dominant inherited partial epilepsy syndrome with onset between age 3 and 13 years. Seizures are characterized by PARESTHESIA and tonic or clonic activity of the lower face associated with drooling and dysarthria. In most cases, affected children are neurologically and developmentally normal. (From Epilepsia 1998 39;Suppl 4:S32-S41) |
| Synonym | epilepsies, rolandic epilepsy roland epilepsy, rolandic epilepsy, rolandic [disease/finding] epilepsy, rolands epilepsy, sylvian rolandic epilepsies rolands epilepsy sylvian epilepsy |
| Orphanet | |
| DOID | |
| UMLS | C0376532 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 919 |
|---|---|
| Disease | rolandic epilepsy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0002167 | Speech disorder | 3 HP:0001250 | Seizures | 2 HP:0000708 | Behavioral problems | 1 HP:0002133 | Status epilepticus | 1 HP:0011158 | Auditory auras | 1 HP:0003470 | Inability to move | 1 |
| Disease ID | 919 |
|---|---|
| Disease | rolandic epilepsy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118192247 | 18625963 | 3786 | KCNQ3 | umls:C0376532 | 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. | 0.000542884 | 2008 | KCNQ3 | 8 | 132175491 | C | T |
| rs188605501 | 18625963 | 3785 | KCNQ2 | umls:C0376532 | BeFree | Mutation analysis of families with rolandic epilepsy without neonatal seizures discovered three novel missense variations (KCNQ2 p.Ile592Met, KCNQ3 p.Ala381Val, KCNQ3 p.Pro574Ser). | 0.000542884 | 2008 | KCNQ2;LOC105372724 | 20 | 63408440 | C | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (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 | 919 |
|---|---|
| Disease | rolandic epilepsy |
| Case | (Waiting for update.) |