Early Myoclonic Encephalopathy

Alias:
Myoclonic Epilepsy
Epilepsies, Myoclonic
Myoclonic Seizure
Early Myoclonic Encephalopathy with Suppression-Bursts
Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic
Myoclonic Seizure Disorder
Myoclonia Epileptica
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Early Myoclonic Encephalopathy, also known as myoclonic epilepsy, is related to epilepsy, myoclonic juvenile and myoclonic epilepsy of unverricht and lundborg, and has symptoms including myoclonus, myoclonic seizures and muscle spasticity. An important gene associated with Early Myoclonic Encephalopathy is SLC25A22 (Solute Carrier Family 25 Member 22). The drugs Liver Extracts and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include brain and liver, and related phenotypes are eeg abnormality and myoclonus
Related ID:
MESH:D004831

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
<1/1000000
70
687
4

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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