Self-limited familial infantile epilepsy
disease diseaseOn this page
Also known as self-limited familial and non-familial infantile seizuresSeLFIE
Summary
Self-limited familial infantile epilepsy (MONDO:0100024) is a disease with 2 cohort genes.
At a glance
- Cohort genes: 2
- ClinVar variants: 2
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | self-limited familial infantile epilepsy |
| Mondo ID | MONDO:0100024 |
| GARD | 0027273 |
| Is cancer (heuristic) | no |
Also known as: self-limited familial and non-familial infantile seizures · SeLFIE
Data availability: 2 ClinVar variants.
Disease family
Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › epilepsy › infantile-onset epilepsy › self-limited familial infantile epilepsy
Related subtypes (1): self-limited familial neonatal epilepsy
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
2 retrieved; paginated sample, class counts are floors:
1 uncertain significance, 1 pathogenic/likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 65758 | NM_145239.3(PRRT2):c.649dup (p.Arg217fs) | MVP-DT | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4082078 | NM_001348323.3(TRIP12):c.3629A>T (p.Asp1210Val) | TRIP12 | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| TRIP12 | Orphanet:528084 | Non-specific syndromic intellectual disability |
Cohort genes → proteins
2 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 2 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| TRIP12 | HGNC:12306 | ENSG00000153827 | Q14669 | E3 ubiquitin-protein ligase TRIP12 | clinvar |
| MVP-DT | HGNC:56029 | ENSG00000238045 | MVP divergent transcript | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| TRIP12 | E3 ubiquitin-protein ligase TRIP12 | E3 ubiquitin-protein ligase involved in ubiquitin fusion degradation (UFD) pathway and regulation of DNA repair. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.5
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Enzyme (other) | 1 | 6.0× | 0.320 |
| Other/Unknown | 1 | 0.9× | 0.805 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| TRIP12 | Enzyme (other) | yes | 2.3.2.26 | HECT_dom, WWE_dom, ARM-like |
| MVP-DT | Other/Unknown | no |
Expression context
Cohort genes with no expression data: 0.
2 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 2 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| calcaneal tendon | 1 |
| male germ cell | 1 |
| sperm | 1 |
| mucosa of transverse colon | 1 |
| oviduct epithelium | 1 |
| tendon of biceps brachii | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| TRIP12 | 302 | ubiquitous | marker | calcaneal tendon, male germ cell, sperm |
| MVP-DT | 191 | marker | oviduct epithelium, mucosa of transverse colon, tendon of biceps brachii |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| TRIP12 | 4,193 |
| MVP-DT | 0 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 1
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| TRIP12 | Q14669 | 5 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 1. Enrichment computed across 2 evidence-associated genes (1 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Antigen processing: Ubiquitination & Proteasome degradation | 1 | 37.2× | 0.027 | TRIP12 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| heterochromatin boundary formation | 1 | 8426.0× | 9e-04 | TRIP12 |
| DNA repair-dependent chromatin remodeling | 1 | 674.1× | 0.006 | TRIP12 |
| regulation of embryonic development | 1 | 330.4× | 0.008 | TRIP12 |
| protein polyubiquitination | 1 | 115.4× | 0.017 | TRIP12 |
| ubiquitin-dependent protein catabolic process | 1 | 74.2× | 0.019 | TRIP12 |
| DNA repair | 1 | 63.8× | 0.019 | TRIP12 |
| DNA damage response | 1 | 53.5× | 0.019 | TRIP12 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 | 52.2× | 0.019 | TRIP12 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2
Druggability breadth: 0 of 2 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| TRIP12 | 0 | 0 |
| MVP-DT | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| TRIP12 | 2.3.2.26 | HECT-type E3 ubiquitin transferase |
Pharmacogenomics
Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 1 | TRIP12 |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | MVP-DT |
Undrugged target profiles
2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| TRIP12 | 0 | — |
| MVP-DT | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.