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Term:
epilepsy with myoclonic absences
(EFO:MONDO:0019487)
Annotations:
Rat: (0)
Mouse: (0)
Human: (0)
Chinchilla: (0)
Bonobo: (0)
Dog: (0)
Squirrel: (0)
Pig: (0)
Naked Mole-rat: (0)
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Parent Terms
Term With Siblings
Child Terms
childhood-onset epilepsy syndrome
+
movement disorder
+
arthrogryposis
+
behavioral variant of frontotemporal dementia
+
benign childhood occipital epilepsy, Gastaut type
benign childhood occipital epilepsy, Panayiotopoulos type
benign paroxysmal tonic upgaze of childhood with ataxia
brain-lung-thyroid syndrome
cerebellar ataxia
+
childhood absence epilepsy
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
chorea
+
chronic tic disorder
corticobasal syndrome
cryptogenic late-onset epileptic spasms
dyskinesia with orofacial involvement, autosomal dominant
early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
epilepsy with myoclonic absences
A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders.
essential tremor
+
extrapyramidal and movement disease
+
familial congenital mirror movements
+
Familial cortical myoclonus
familial partial epilepsy
+
frontotemporal dementia with motor neuron disease
+
hereditary geniospasm
Huntington disease
+
Huntington disease-like 3
Huntington disease-like syndrome due to C9ORF72 expansions
hyperekplexia
+
idiopathic hemiconvulsion-hemiplegia syndrome
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
inherited Creutzfeldt-Jakob disease
intellectual disability-hyperkinetic movement-truncal ataxia syndrome
+
Jeavons syndrome
juvenile myoclonic epilepsy
kuru
Lafora disease
+
Landau-Kleffner syndrome
+
Lennox-Gastaut syndrome
+
multiple system atrophy
+
myoclonic-astatic epilepsy
myoclonus, familial
neuroacanthocytosis
+
neurodegeneration with brain iron accumulation
+
neuronal intranuclear inclusion disease
Opsoclonus-Myoclonus Syndrome
periodic limb movement disorder
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
progressive myoclonus epilepsy
+
progressive non-fluent aphasia
+
progressive supranuclear palsy
+
proximal myopathy with extrapyramidal signs
PRRT2-associated paroxysmal movement disorder
+
Rare genetic movement disorder
+
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
rolandic epilepsy-speech dyspraxia syndrome
sensorineural hearing loss-early graying-essential tremor syndrome
SLC6A3-related dopamine transporter deficiency syndrome
+
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Stiff-Person syndrome
Tourette syndrome
transient tic disorder
Unverricht-Lundborg syndrome
Synonyms
Alternate IDs:
MONDO:0019487
Xrefs:
GARD:19087
; MEDGEN:140741 ; NANDO:1200589 ;
ORDO:86911
; SCTID:230422001 ; UMLS:C0393703 ; icd11.foundation:274380122
see_also:
https://www.epilepsydiagnosis.org/syndrome/epilepsy-myoclonic-absences-overview.html
Definition Sources:
Orphanet:86911