loading...| Preferred Name |
Early myoclonic encephalopathy |
|
| Synonyms |
Early myoclonic encephalopathy with suppression-bursts |
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| Definitions |
A rare disorder characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_1935 |
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| alternative_term |
Early myoclonic encephalopathy with suppression-bursts |
|
| definition |
A rare disorder characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern. |
|
| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1935 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Autosomal recessive Autosomal dominant |
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| hasDbXref |
OMIM:609304 ICD-10:G40.4 OMIM:617105 OMIM:616341 ICD-11:8A61.0Y UMLS:C0270855 |
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| label |
Early myoclonic encephalopathy |
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| notation |
ORPHA:1935 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_1935 |
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| prefLabel |
Early myoclonic encephalopathy |
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| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 80.0 (Case) |
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| treeView | ||
| subClassOf |