Cytoscape Web
Click node...

Epilepsy with myoclonic-astatic seizures
3 associated genes
25 connected diseases
No signs/symptoms info
Disease Type of connection
Lennox-Gastaut syndrome
Childhood absence epilepsy
Dravet syndrome
Encephalopathy due to GLUT1 deficiency
Familial or sporadic hemiplegic migraine
Generalized epilepsy with febrile seizures-plus context
Hereditary cryohydrocytosis with reduced stomatin
Malignant migrating partial seizures of infancy
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Paroxysmal exertion-induced dyskinesia
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Romano-Ward syndrome
Chuvash erythrocytosis
Von Hippel-Lindau disease
Alternating hemiplegia of childhood
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Behavioral variant of frontotemporal dementia
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Early-onset autosomal dominant Alzheimer disease
Familial isolated dilated cardiomyopathy
Progressive non-fluent aphasia
Rapid-onset dystonia-parkinsonism
Semantic dementia
Young adult-onset Parkinsonism
Synonym(s):
- Doose syndrome
- EMAS
- Epilepsy with myoclonic-atonic seizures
- MAE
- Myoclonic atonic epilepsy
- Myoclonic-astatic epilepsy in early childhood
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
CHD2 O14647602119
SCN1A P35498182389
SLC2A1 P11166138140
No signs/symptoms info available.