Juvenile absence epilepsy

Summary

Juvenile absence epilepsy (MONDO:0800453) is a disease and 5 clinical trials. Top therapeutic interventions include brivaracetam and flunarizine hydrochloride. A subtype of variable-age onset idiopathic generalized epilepsy syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
• Phenotypes (HPO): 13
• Clinical trials: 5

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 100 000	7.5	Europe	Validated
Point prevalence	1-9 / 100 000		Europe	Validated

Signs & symptoms

Clinical features (HPO)

13 HPO clinical features (Orphanet curated; top 13 by frequency):

HPO ID	Term	Frequency
HP:0002069	Bilateral tonic-clonic seizure	Very frequent (80-99%)
HP:0002197	Generalized-onset seizure	Very frequent (80-99%)
HP:0002392	EEG with polyspike wave complexes	Very frequent (80-99%)
HP:0000153	Abnormality of the mouth	Frequent (30-79%)
HP:0000496	Abnormality of eye movement	Frequent (30-79%)
HP:0001336	Myoclonus	Frequent (30-79%)
HP:0002121	Generalized non-motor (absence) seizure	Frequent (30-79%)
HP:0002133	Status epilepticus	Occasional (5-29%)
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	Occasional (5-29%)
HP:0032794	Myoclonic seizure	Occasional (5-29%)
HP:0100851	Abnormal emotion/affect behavior	Occasional (5-29%)
HP:0000739	Anxiety	Occasional (5-29%)
HP:0001328	Specific learning disability	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	juvenile absence epilepsy
Mondo ID	MONDO:0800453
Orphanet	1941
DOID	DOID:0060172
ICD-11	519416529
NCIT	C129868
SNOMED CT	230413002
UMLS	C4317339
MedGen	1388059
GARD	0002162
Is cancer (heuristic)	no

Also known as: epilepsy juvenile absence · JAE

Data availability: 1 cell line.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary neurological disease › hereditary generalized epilepsy › idiopathic generalized epilepsy › variable-age onset idiopathic generalized epilepsy syndrome › juvenile absence epilepsy

Related subtypes (3): epilepsy with generalized tonic-clonic seizures, juvenile myoclonic epilepsy, epilepsy, idiopathic generalized 20

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

No tiered GWAS variants or ClinVar records for this disease.

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: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE3	3
PHASE2	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04666610	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Efficacy, Safety, and Tolerability of Brivaracetam as Monotherapy in Patients 2 to 25 Years of Age With Childhood Absence Epilepsy or Juvenile Absence Epilepsy
NCT06315322	PHASE3	RECRUITING	A Study to Test the Long-term Safety and Tolerability of Brivaracetam in Study Participants With Childhood Absence Epilepsy or Juvenile Absence Epilepsy
NCT05109234	PHASE3	COMPLETED	A Study to Test the Long-term Safety, Tolerability and Efficacy of Brivaracetam in Study Participants 2 to 26 Years of Age With Childhood Absence Epilepsy or Juvenile Absence Epilepsy
NCT06153186	PHASE2	TERMINATED	Flunarizine for Treatment Resistant Absence Epilepsy
NCT03676543	Not specified	TERMINATED	Mutual Interactions Between Absence Epilepsy Seizures and the Integration of Sensory Stimuli

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BRIVARACETAM	4	3
FLUNARIZINE HYDROCHLORIDE	2	1