Generalized Epilepsy with Febrile Seizures Plus, Type 4 (GEFSP4)

Alias:
Generalized Epilepsy with Febrile Seizures Plus 4
Gefsp4
Gefs+4
Generalised Epilepsy with Febrile Seizures Plus Type 4
Generalized Epilepsy with Febrile Seizures Plus Type 4
Generalised Epilepsy with Febrile Seizures Plus 4
Gefs+, Type 4
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Generalized Epilepsy with Febrile Seizures Plus, Type 4, also known as generalized epilepsy with febrile seizures plus 4, is related to developmental and epileptic encephalopathy 43 and juvenile absence epilepsy. An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 4 is GEFSP4 (Epilepsy, Generalized, With Febrile Seizures Plus, Type 4), and among its related pathways/superpathways are mBDNF and proBDNF regulation of GABA neurotransmission and Synaptic Neurotransmission: GABAergic Inhibition. Related phenotypes are bilateral tonic-clonic seizure and febrile seizure (within the age range of 3 months to 6 years)

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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7
62
1

Medical Symptom

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Description
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No data available

Gene & Mutation

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Related Drugs

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Disease Model

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MGI
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Publications
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References Literature

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