Myoclonic Epilepsy, Familial Infantile (FIME)

Alias:
Familial Infantile Myoclonic Epilepsy
Fime
Myoclonic Epilepsy, Infantile, Familial
Eim
Epilepsy, Myoclonic, Infantile, Familial
Familial Infantile Myoclonus Epilepsy
Epilepsy, Myoclonic, Infantile
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myoclonic Epilepsy, Familial Infantile, also known as familial infantile myoclonic epilepsy, is related to tbc1d24-related disorders and tuberous sclerosis 1. An important gene associated with Myoclonic Epilepsy, Familial Infantile is TBC1D24 (TBC1 Domain Family Member 24). Affiliated tissues include cortex and brain, and related phenotypes are seizure and generalized myoclonic seizure
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
2
13
7

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

Title
PMID
Journal
Year
IF
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