Generalized Epilepsy with Febrile Seizures Plus, Type 2 (GEFSP2)

Alias:
Febrile Seizures, Familial, 3a
Generalized Epilepsy with Febrile Seizures Plus 2
Gefsp2
Gefs+2
Epilepsy, Generalized, with Febrile Seizures Plus, Type 2
Generalised Epilepsy with Febrile Seizures Plus Type 2
Generalized Epilepsy with Febrile Seizures Plus Type 2
Generalised Epilepsy with Febrile Seizures Plus 2
Febrile Convulsions, Familial, 3a
Familial Febrile Convulsions 3
Gefs+, Type 2
Gefs+ Type 2
Feb3a
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Generalized Epilepsy with Febrile Seizures Plus, Type 2, also known as febrile seizures, familial, 3a, is related to generalized epilepsy with febrile seizures plus, type 7 and febrile seizures, and has symptoms including absence seizures and myoclonic seizures. An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 2 is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Cardiac conduction and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include brain, and related phenotypes are generalized myoclonic seizure and bilateral tonic-clonic seizure
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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10
122
54

Medical Symptom

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Categorization
Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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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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