Familial temporal lobe epilepsy 8
diseaseOn this page
Also known as epilepsy, familial temporal lobe, 8epilepsy, familial temporal lobe, type 8ETL8familial temporal lobe epilepsy type 8
Summary
Familial temporal lobe epilepsy 8 (MONDO:0014650) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 56
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | familial temporal lobe epilepsy 8 |
| Mondo ID | MONDO:0014650 |
| OMIM | 616461 |
| DOID | DOID:0060754 |
| UMLS | C4225318 |
| MedGen | 909158 |
| GARD | 0016116 |
| Is cancer (heuristic) | no |
Also known as: epilepsy, familial temporal lobe, 8 · epilepsy, familial temporal lobe, type 8 · ETL8 · familial temporal lobe epilepsy type 8
Data availability: 56 ClinVar variants · 1 GenCC gene-disease record.
Disease family
Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › epilepsy › focal epilepsy › familial partial epilepsy › temporal lobe epilepsy › familial temporal lobe epilepsy 8
Related subtypes (5): familial temporal lobe epilepsy 2, familial temporal lobe epilepsy 4, familial temporal lobe epilepsy 7, epilepsy, familial temporal lobe, 1, familial mesial temporal lobe 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
56 retrieved; paginated sample, class counts are floors:
37 uncertain significance, 13 likely benign, 5 benign, 1 pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 372128 | NM_015973.5(GAL):c.116C>A (p.Ala39Glu) | GAL | Pathogenic | no assertion criteria provided |
| 1018689 | NM_015973.5(GAL):c.202C>T (p.Pro68Ser) | GAL | Uncertain significance | criteria provided, single submitter |
| 1021546 | NM_015973.5(GAL):c.337G>A (p.Ala113Thr) | GAL | Uncertain significance | criteria provided, single submitter |
| 1027299 | NM_015973.5(GAL):c.223+3G>C | GAL | Uncertain significance | criteria provided, single submitter |
| 1037453 | NM_015973.5(GAL):c.7C>T (p.Arg3Ter) | GAL | Uncertain significance | criteria provided, single submitter |
| 1037569 | NM_015973.5(GAL):c.13A>G (p.Ser5Gly) | GAL | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1039520 | NM_015973.5(GAL):c.200G>C (p.Arg67Pro) | GAL | Uncertain significance | criteria provided, single submitter |
| 1043494 | NM_015973.5(GAL):c.263G>T (p.Arg88Leu) | GAL | Uncertain significance | criteria provided, single submitter |
| 1051811 | NM_015973.5(GAL):c.216G>A (p.Met72Ile) | GAL | Uncertain significance | criteria provided, single submitter |
| 1412001 | NC_000011.9:g.(?68453042)(68453136_?)del | GAL | Uncertain significance | criteria provided, single submitter |
| 475911 | NM_015973.5(GAL):c.205G>A (p.Glu69Lys) | GAL | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 475912 | NM_015973.5(GAL):c.263G>A (p.Arg88His) | GAL | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 475916 | NM_015973.5(GAL):c.55T>C (p.Ser19Pro) | GAL | Uncertain significance | criteria provided, single submitter |
| 4846799 | NM_015973.5(GAL):c.104C>G (p.Thr35Ser) | GAL | Uncertain significance | criteria provided, single submitter |
| 542524 | NM_015973.5(GAL):c.199C>T (p.Arg67Trp) | GAL | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 542525 | NM_015973.5(GAL):c.140C>T (p.Ala47Val) | GAL | Uncertain significance | criteria provided, single submitter |
| 571157 | NM_015973.5(GAL):c.178C>T (p.Leu60Phe) | GAL | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 574523 | NM_015973.5(GAL):c.43G>A (p.Ala15Thr) | GAL | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 578366 | NM_015973.5(GAL):c.137-2A>G | GAL | Uncertain significance | criteria provided, single submitter |
| 642760 | NC_000011.10:g.68685594del | GAL | Uncertain significance | criteria provided, single submitter |
| 644385 | NM_015973.5(GAL):c.166G>A (p.Asp56Asn) | GAL | Uncertain significance | criteria provided, single submitter |
| 831647 | NC_000011.10:g.(?68684904)(68691007_?)dup | GAL | Uncertain significance | criteria provided, single submitter |
| 837648 | NM_015973.5(GAL):c.335C>G (p.Pro112Arg) | GAL | Uncertain significance | criteria provided, single submitter |
| 838372 | NM_015973.5(GAL):c.28G>A (p.Ala10Thr) | GAL | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 850500 | NM_015973.5(GAL):c.16G>A (p.Ala6Thr) | GAL | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 851157 | NM_015973.5(GAL):c.223+3G>A | GAL | Uncertain significance | criteria provided, single submitter |
| 851392 | NM_015973.5(GAL):c.311C>T (p.Ala104Val) | GAL | Uncertain significance | criteria provided, single submitter |
| 863573 | NM_015973.5(GAL):c.191G>A (p.Arg64Gln) | GAL | Uncertain significance | criteria provided, single submitter |
| 864078 | NM_015973.5(GAL):c.316G>A (p.Asp106Asn) | GAL | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 931506 | NM_015973.5(GAL):c.81+12G>A | GAL | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 1 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| GAL | Limited | Autosomal dominant | familial temporal lobe epilepsy 8 |
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| GAL | HGNC:4114 | ENSG00000069482 | P22466 | Galanin peptides | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| GAL | Galanin peptides | Endocrine hormone of the central and peripheral nervous systems that binds and activates the G protein-coupled receptors GALR1, GALR2, and GALR3. |
Protein-family classification
Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0
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 |
|---|---|---|---|
| Other/Unknown | 1 | 1.8× | 0.558 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| GAL | Other/Unknown | no | Galanin, Galanin_pre, GMAP |
Expression context
Cohort genes with no expression data: 0.
1 cohort gene 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) | 1 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| adenohypophysis | 1 |
| pituitary gland | 1 |
| upper leg skin | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| GAL | 164 | ubiquitous | marker | adenohypophysis, pituitary gland, upper leg skin |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| GAL | 1,160 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| GAL | P22466 | 10 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 1 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 |
|---|---|---|---|---|
| Peptide ligand-binding receptors | 1 | 74.2× | 0.026 | GAL |
| G alpha (i) signalling events | 1 | 39.0× | 0.026 | GAL |
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 |
|---|---|---|---|---|
| regulation of glucocorticoid metabolic process | 1 | 8426.0× | 0.001 | GAL |
| parental behavior | 1 | 8426.0× | 0.001 | GAL |
| positive regulation of timing of catagen | 1 | 5617.3× | 0.001 | GAL |
| positive regulation of cortisol secretion | 1 | 4213.0× | 0.001 | GAL |
| negative regulation of lymphocyte proliferation | 1 | 3370.4× | 0.001 | GAL |
| obsolete protein kinase A signaling | 1 | 1404.3× | 0.002 | GAL |
| behavioral response to ethanol | 1 | 1203.7× | 0.002 | GAL |
| response to peptide | 1 | 1123.5× | 0.002 | GAL |
| drinking behavior | 1 | 991.3× | 0.002 | GAL |
| response to immobilization stress | 1 | 732.7× | 0.003 | GAL |
| insulin secretion | 1 | 432.1× | 0.004 | GAL |
| response to estrogen | 1 | 343.9× | 0.005 | GAL |
| response to insulin | 1 | 230.8× | 0.007 | GAL |
| locomotory behavior | 1 | 179.3× | 0.008 | GAL |
| neuropeptide signaling pathway | 1 | 172.0× | 0.008 | GAL |
| response to xenobiotic stimulus | 1 | 69.1× | 0.018 | GAL |
| positive regulation of apoptotic process | 1 | 56.7× | 0.021 | GAL |
| nervous system development | 1 | 45.9× | 0.024 | GAL |
| signal transduction | 1 | 16.1× | 0.066 | GAL |
| positive regulation of transcription by RNA polymerase II | 1 | 14.9× | 0.067 | GAL |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 0 of 1 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 |
|---|---|---|
| GAL | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
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 | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | GAL |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| GAL | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: GAL