A pedigree of generalized epilepsy with febrile seizure plus and its literature review

Abstract

Objective To identify and analyze the genotype-phenotype correlations in a Chinese family with generalized epilepsy with febrile seizures plus (GEFS+) and its inheritance. Methods The clinical data of the proband and other available members in the GETS+ family were investigated and analyzed; their MRI and electroencephalogram were provided; the drug therapy was adjusted in patients still having seizures; at last,complete family constellation was set up. Results There were 20 affected members in the six-generation family,in which 9 were with febrile seizures (FS) and 4 with febrile seizures plus (FS+).Three patients died at an early age,and their treatment methods were un-known; 10patients accepted informal anti-epileptic treatment, and the other 7 accepted anti-epileptic treatments and/or other treatments.All patients,except the proband,had a good prognosis; most patients were seizure-free before the age of puberty; only 3 patients had occasional seizures after the puberty.Conclusion The heterogeneity of phenotypes and genetics may be the hallmarks of GETS+; FS and FS+are the common phenotypes; it is speculated that the hereditary pattern of GEFS+ conforms to be the autosomal dominant inheritance; family history is the key of final diagnosis. Key words: Epilepsy; Generalized epilepsy with febrile seizures plus; Pedigree