Disease #02510 (GEFSP2;FEB3A (epilepsy, generalized, with febrile seizures plus, type 2), OMIM:604403)

Official abbreviation GEFSP2;FEB3A
Name epilepsy, generalized, with febrile seizures plus, type 2
OMIM ID 604403
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 5
Phenotype entries for this disease 2
Associated with 1 gene SCN1A
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2023-01-10 15:53:14 +01:00 (CET)


Individuals

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00391860 018P - - M no Spain - - - - - DRVT, GEFSP2;FEB3A - - SCN1A 1 1 Alejandro Brea-Fernández
00395532 189484 - - F ? - - - - - - GEFSP2;FEB3A Febrile seizure outside the age of 3 months to 6 years; In the first 3 years of life already at least 13 fever-related seizures with normal development so far, father and paternal uncle had febrile convulsions up to the age of 13, were treated with medication, known febrile convulsions also in the family on the mother's side, younger sister also affected, EEG and MRI so far unremarkable SCN1A SCN1A 1 1 Andreas Laner
00417877 205435 - - M no Germany - - - - - GEFSP2;FEB3A seizure, suspected genetic epilepsy, maternal grandmother died of epilepsy or had many epileptic seizures. SCN1A SCN1A 1 1 Andreas Laner
00448671 - - - - - (China) - - - - - GEFSP2;FEB3A, MATINS;MHA;BDPLT6 - MYH9, SCN1A MYH9, SCN1A 2 1 Xaohong Qiao
00448673 - - - - - China - - - - - GEFSP2;FEB3A - SCN1A SCN1A 1 1 Xaohong Qiao
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.