Rasmussen subacute encephalitis

Summary

Rasmussen subacute encephalitis (MONDO:0016019) is a disease and 6 clinical trials. Top therapeutic interventions include tacrolimus anhydrous. A subtype of postinfectious encephalitis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 48
• Clinical trials: 6

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		100	Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

48 HPO clinical features (Orphanet curated; top 48 by frequency):

HPO ID	Term	Frequency
HP:0004302	Functional motor deficit	Very frequent (80-99%)
HP:0007359	Focal-onset seizure	Very frequent (80-99%)
HP:0001269	Hemiparesis	Frequent (30-79%)
HP:0002119	Ventriculomegaly	Frequent (30-79%)
HP:0002349	Focal aware seizure	Frequent (30-79%)
HP:0002384	Focal impaired awareness seizure	Frequent (30-79%)
HP:0002960	Autoimmunity	Frequent (30-79%)
HP:0004305	Involuntary movements	Frequent (30-79%)
HP:0011153	Focal motor seizure	Frequent (30-79%)
HP:0011193	EEG with focal spikes	Frequent (30-79%)
HP:0011195	EEG with focal sharp slow waves	Frequent (30-79%)
HP:0012157	Subcortical cerebral atrophy	Frequent (30-79%)
HP:0012847	Epilepsia partialis continua	Frequent (30-79%)
HP:0032665	Repeated focal motor seizures	Frequent (30-79%)
HP:0100308	Cerebral cortical hemiatrophy	Frequent (30-79%)
HP:0100543	Cognitive impairment	Frequent (30-79%)
HP:0000572	Visual loss	Occasional (5-29%)
HP:0000708	Atypical behavior	Occasional (5-29%)
HP:0000712	Emotional lability	Occasional (5-29%)
HP:0000737	Irritability	Occasional (5-29%)
HP:0000752	Hyperactivity	Occasional (5-29%)
HP:0001260	Dysarthria	Occasional (5-29%)
HP:0001328	Specific learning disability	Occasional (5-29%)
HP:0002134	Abnormality of the basal ganglia	Occasional (5-29%)
HP:0002354	Memory impairment	Occasional (5-29%)
HP:0002381	Aphasia	Occasional (5-29%)
HP:0002540	Inability to walk	Occasional (5-29%)
HP:0002921	Abnormality of the cerebrospinal fluid	Occasional (5-29%)
HP:0002922	Increased CSF protein concentration	Occasional (5-29%)
HP:0003493	Antinuclear antibody positivity	Occasional (5-29%)
HP:0007018	Attention deficit hyperactivity disorder	Occasional (5-29%)
HP:0007334	Bilateral tonic-clonic seizure with focal onset	Occasional (5-29%)
HP:0010818	Generalized tonic seizure	Occasional (5-29%)
HP:0011163	Somatosensory auras	Occasional (5-29%)
HP:0011182	Interictal epileptiform activity	Occasional (5-29%)
HP:0011185	EEG with focal epileptiform discharges	Occasional (5-29%)
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	Occasional (5-29%)
HP:0020151	Anti-dsDNA antibody positivity	Occasional (5-29%)
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	Occasional (5-29%)
HP:0031491	Continuous spike and waves during slow sleep	Occasional (5-29%)
HP:0031535	Increased theta frequency activity in EEG	Occasional (5-29%)
HP:0032005	Hemidystonia	Occasional (5-29%)
HP:0032046	Focal cortical dysplasia	Occasional (5-29%)
HP:0100660	Dyskinesia	Occasional (5-29%)
HP:0002283	Global brain atrophy	Very rare (<1-4%)
HP:0003460	Decreased circulating total IgA	Very rare (<1-4%)
HP:0011097	Epileptic spasm	Very rare (<1-4%)
HP:0032661	Generalized convulsive status epilepticus	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Rasmussen subacute encephalitis
Mondo ID	MONDO:0016019
MeSH	C535291
Orphanet	1929
NCIT	C125384
SNOMED CT	230191005
UMLS	C2930868
MedGen	418934
GARD	0018752
NORD	1649
Is cancer (heuristic)	no

Also known as: CFE · chronic focal encephalitis · Rasmussen Encephalitis · Rasmussen encephalitis · Rasmussen syndrome · Rasmussen’s encephalitis · Rasmussen’s syndrome · RE

Data availability: 12 cell lines.

Disease family

This is a subtype of postinfectious encephalitis. 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 › encephalomyelitis › encephalitis › infectious encephalitis › postinfectious encephalitis › Rasmussen subacute encephalitis

Related subtypes (6): limbic encephalitis with LGI1 antibodies, Bickerstaff brainstem encephalitis, acute disseminated encephalomyelitis, encephalitis lethargica, steroid-responsive encephalopathy associated with autoimmune thyroiditis, rubella encephalitis

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: 6.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE2/PHASE3	1
PHASE2	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00545493	PHASE2/PHASE3	UNKNOWN	Efficacy of Tacrolimus and I.V.-Immunoglobulins in Rasmussen Encephalitis
NCT00716066	PHASE2	ACTIVE_NOT_RECRUITING	Autologous Stem Cell Transplant for Neurologic Autoimmune Diseases
NCT00259805	PHASE1	COMPLETED	A Pilot Study of the Use of Rituximab in the Treatment of Chronic Focal Encephalitis
NCT05017142	Not specified	RECRUITING	Swiss Pediatric Inflammatory Brain Disease Registry (Swiss-Ped-IBrainD)
NCT04003922	Not specified	UNKNOWN	Study on Patients With Rasmussen Encephalitis Treated With Adalimumab: Efficacy and Tolerance in the Short and Long Term
NCT04344626	Not specified	WITHDRAWN	Use of a Tonometer to Identify Epileptogenic Lesions During Pediatric Epilepsy Surgery

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
TACROLIMUS ANHYDROUS	4	1