Familial temporal lobe epilepsy 2

Summary

Familial temporal lobe epilepsy 2 (MONDO:0011965) is a disease. A subtype of temporal lobe epilepsy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	familial temporal lobe epilepsy 2
Mondo ID	MONDO:0011965
MeSH	C536956
OMIM	608096
DOID	DOID:0060755
UMLS	C4759869
MedGen	1683026
GARD	0024834
Is cancer (heuristic)	no

Also known as: epilepsy, familial temporal lobe · epilepsy, familial temporal lobe, 2 · ETL2 · familial temporal lobe epilepsy type 2 · temporal epilepsy, familial

Data availability: 1 ClinVar variant.

Disease family

This is a subtype of temporal lobe epilepsy. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

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 2

Related subtypes (5): familial temporal lobe epilepsy 4, familial temporal lobe epilepsy 7, familial temporal lobe epilepsy 8, 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

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1307843	NM_001077350.3(NPRL3):c.601G>T (p.Ala201Ser)	HBA-LCR	Uncertain significance	criteria provided, single submitter

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.