Genetic Epilepsy with Febrile Seizures Plus

2020 ◽  
pp. 53-57
Author(s):  
William O. Tatum
Keyword(s):  
Febrile Seizures ◽  
Genetic Epilepsy ◽  
Febrile Seizures Plus

Mutation screening of three Chinese families with genetic epilepsy with febrile seizures plus

2011 ◽  
Vol 500 (2) ◽  
pp. 123-128 ◽  
Author(s):  
Hua Lin ◽  
Jingyun Li ◽  
Mengyang Wang ◽  
Zheng Wang ◽  
Yuping Wang ◽  
...  
Keyword(s):  
Mutation Screening ◽  
Febrile Seizures ◽  
Chinese Families ◽  
Genetic Epilepsy ◽  
Febrile Seizures Plus

Author response for "H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus"

2020 ◽  
Author(s):  
Jian Ding ◽  
Qin‐Fei Miao ◽  
Jing‐Wen Zhang ◽  
Yu‐Xiong Guo ◽  
Yu‐Xin Zhang ◽  
...  
Keyword(s):  
Febrile Seizures ◽  
Author Response ◽  
Genetic Epilepsy ◽  
Febrile Seizures Plus ◽  
I Gene

Genetic epilepsy with febrile seizures plus

Neurology ◽  
2017 ◽  
Vol 89 (12) ◽  
pp. 1210-1219 ◽  
Author(s):  
Yue-Hua Zhang ◽  
Rosemary Burgess ◽  
Jodie P. Malone ◽  
Georgie C. Glubb ◽  
Katherine L. Helbig ◽  
...  
Keyword(s):  
Genetic Data ◽  
Febrile Seizures ◽  
Original Description ◽  
Molecular Data ◽  
Genetic Determinants ◽  
Genetic Epilepsy ◽  
Phenotypic Spectrum ◽  
Clonic Seizures ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus

Objective:Following our original description of generalized epilepsy with febrile seizures plus (GEFS+) in 1997, we analyze the phenotypic spectrum in 409 affected individuals in 60 families (31 new families) and expand the GEFS+ spectrum.Methods:We performed detailed electroclinical phenotyping on all available affected family members. Genetic analysis of known GEFS+ genes was carried out where possible. We compared our phenotypic and genetic data to those published in the literature over the last 19 years.Results:We identified new phenotypes within the GEFS+ spectrum: focal seizures without preceding febrile seizures (16/409 [4%]), classic genetic generalized epilepsies (22/409 [5%]), and afebrile generalized tonic-clonic seizures (9/409 [2%]). Febrile seizures remains the most frequent phenotype in GEFS+ (178/409 [44%]), followed by febrile seizures plus (111/409 [27%]). One third (50/163 [31%]) of GEFS+ families tested have a pathogenic variant in a known GEFS+ gene.Conclusion:As 37/409 (9%) affected individuals have focal epilepsies, we suggest that GEFS+ be renamed genetic epilepsy with febrile seizures plus rather than generalized epilepsy with febrile seizures plus. The phenotypic overlap between GEFS+ and the classic generalized epilepsies is considerably greater than first thought. The clinical and molecular data suggest that the 2 major groups of generalized epilepsies share genetic determinants.

POE08 Generalised (or genetic) epilepsy with febrile seizures plus phenotypes of definite and borderline UK families

2010 ◽  
Vol 81 (11) ◽  
pp. e48-e48
Author(s):  
J. A. Johnston ◽  
R. H. Thomas ◽  
C. L. Hammond ◽  
S. Bagguley ◽  
C. White ◽  
...  
Keyword(s):  
Febrile Seizures ◽  
Genetic Epilepsy ◽  
Febrile Seizures Plus

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

1999 ◽  
Vol 45 (1) ◽  
pp. 75-81 ◽  
Author(s):  
Rita Singh ◽  
Ingrid E. Scheffer ◽  
Kathryn Crossland ◽  
Samuel F. Berkovic
Keyword(s):  
Febrile Seizures ◽  
Epilepsy Syndrome ◽  
Childhood Onset ◽  
Genetic Epilepsy ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

2016 ◽  
Vol 128 ◽  
pp. 48-51 ◽  
Author(s):  
Kristin A. Rigbye ◽  
Peter M. van Hasselt ◽  
Rosemary Burgess ◽  
John A. Damiano ◽  
Saul A. Mullen ◽  
...  
Keyword(s):  
Febrile Seizures ◽  
Major Contributor ◽  
Genetic Epilepsy ◽  
Febrile Seizures Plus
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