Clinical analysis of two families with generalized epilepsy with febrile seizures plus

doi:10.3877/cma.j.issn.1673-5250.2007.02.105

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2007, Vol. 03 ›› Issue (02): 74 -f6. doi: 10.3877/cma.j.issn.1673-5250.2007.02.105

Original Article

Clinical analysis of two families with generalized epilepsy with febrile seizures plus

Feng ZENG, Mu-gen LIU, Chuan-wei ZHU, Jun WANG, Huan KE

Department of Pediatrics, Centre Hospital of Xuancheng, Xuancheng City . AnHui Province, Xuancheng, 242000, China

Published:2007-04-01

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Objective

To analyze the clinical characteristics of two families with generalizedepilepsy with febrile seizures plus (GEFS⁺).

Methods

Through collection and diagnosis of two GEFS⁺families, the comprehensive pedigree and detailed clinical data were established. Its clinical data and relational references were analyzed by authors.

Results

There are 53 people in the two families in all, including 11 patients (7 male and 4 female). The patients' ages were from 10 months to 39 years, with onset ages from 6 months to 5 years. There are a broad spectrum of clinical phenotypes, such as febrile seizure (FS) in 6 cases, FS⁺ in 2 cases, FS⁺ and absence seizure in 1 case, FS⁺ and atonic seizure in 2affected persons. The attacks of 5 cases were well controlled by antiepileptic drugs. Nervous system examination and CT(or MRI) scans of all affected didn't detect any positive result.

Conclusion

GEFS⁺, which often occurs in childhood, is a kind of autosomal dominant genetic epileptic syndrome. FS and FS⁺are its major clinical phenotypes. Generalized epilepsy seizure is mostly simultaneous in the FS⁺ patients. Family history investigation will be great help to its diagnosis.

Key words: generalized epilepsy with Febrile seizures plus, family detection, heredity

图1　全面性癫痫伴热性惊厥附加症A家系图谱

图2　全面性癫痫伴热性惊厥附加症B家系图谱

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