Myoclonic epilepsy in infancy

Summary

Myoclonic epilepsy in infancy (MONDO:0100566) is a disease. A subtype of infantile epilepsy syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 21

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		106	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

21 HPO clinical features (Orphanet curated; top 21 by frequency):

HPO ID	Term	Frequency
HP:0001256	Intellectual disability, mild	Very frequent (80-99%)
HP:0001326	EEG with irregular generalized spike and wave complexes	Very frequent (80-99%)
HP:0002069	Bilateral tonic-clonic seizure	Very frequent (80-99%)
HP:0002123	Generalized myoclonic seizure	Very frequent (80-99%)
HP:0007018	Attention deficit hyperactivity disorder	Very frequent (80-99%)
HP:0000718	Aggressive behavior	Frequent (30-79%)
HP:0000737	Irritability	Frequent (30-79%)
HP:0001263	Global developmental delay	Frequent (30-79%)
HP:0001268	Mental deterioration	Frequent (30-79%)
HP:0001336	Myoclonus	Frequent (30-79%)
HP:0002275	Poor motor coordination	Frequent (30-79%)
HP:0002376	Developmental regression	Frequent (30-79%)
HP:0007057	Poor hand-eye coordination	Frequent (30-79%)
HP:0001112	Leber optic atrophy	Occasional (5-29%)
HP:0001260	Dysarthria	Occasional (5-29%)
HP:0002121	Generalized non-motor (absence) seizure	Occasional (5-29%)
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	Occasional (5-29%)
HP:0002463	Language impairment	Occasional (5-29%)
HP:0007207	Photosensitive tonic-clonic seizures	Occasional (5-29%)
HP:0010862	Delayed fine motor development	Occasional (5-29%)
HP:0002301	Hemiplegia	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	myoclonic epilepsy in infancy
Mondo ID	MONDO:0100566
Orphanet	86909
UMLS	C0751120
MedGen	148242
GARD	0019086
Is cancer (heuristic)	no

Also known as: benign myoclonic epilepsy of infancy · benign myoclonus epilepsy of infancy · MEI

Disease family

This is a subtype of infantile epilepsy syndrome. 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 › epilepsy syndrome › infantile epilepsy syndrome › myoclonic epilepsy in infancy

Related subtypes (8): intellectual disability, autosomal dominant 5, benign partial infantile seizures, infant epilepsy with migrant focal crisis, infantile spasms-broad thumbs syndrome, progressive myoclonic epilepsy with dystonia, infantile-onset mesial temporal lobe epilepsy with severe cognitive regression, undetermined early-onset epileptic encephalopathy, idiopathic hemiconvulsion-hemiplegia syndrome

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: 0.