Singh R, Scheffer I E, Crossland K, Berkovic S F
Department of Medicine (Neurology), University of Melbourne, Austin and Repatriation Medical Center, Victoria, Australia.
Ann Neurol. 1999 Jan;45(1):75-81. doi: 10.1002/1531-8249(199901)45:1<75::aid-art13>3.0.co;2-w.
We examined the phenotypic variation and clinical genetics in nine families with generalized epilepsy with febrile seizures plus (GEFS+). This genetic epilepsy syndrome with heterogeneous phenotypes was hitherto described in only one family. We obtained genealogical information on 799 individuals and conducted detailed evaluation of 272 individuals. Ninety-one individuals had a history of seizures and 63 had epilepsy consistent with the GEFS+ syndrome. Epilepsy phenotypes were febrile seizures (FS) in 31, febrile seizures plus (FS+) in 15, FS+ with other seizure types (atonic, myoclonic, absence, or complex partial) in 8, and myoclonic-astatic epilepsy in 9 individuals. Inheritance was autosomal dominant with approximately 60% penetrance. This study confirms and expands the spectrum of GEFS+ and provides new insights into the phenotypic relationships and genetics of FS and the generalized epilepsies of childhood. Moreover, the ability to identify large families with this newly recognized common, childhood-onset, generalized genetic epilepsy syndrome suggests that it should be a prime target for attempts to identify genes relevant to FS and generalized epilepsy.
我们研究了9个伴有热性惊厥附加症（GEFS+）的全面性癫痫家族的表型变异和临床遗传学。这种具有异质性表型的遗传性癫痫综合征此前仅在一个家族中被描述过。我们获取了799名个体的系谱信息，并对272名个体进行了详细评估。91名个体有癫痫发作史，63名个体患有符合GEFS+综合征的癫痫。癫痫表型包括31名热性惊厥（FS）、15名热性惊厥附加症（FS+）、8名伴有其他发作类型（失张力、肌阵挛、失神或复杂部分性发作）的FS+以及9名肌阵挛-无动性癫痫个体。遗传方式为常染色体显性遗传，外显率约为60%。本研究证实并扩展了GEFS+的范围，并为FS与儿童全面性癫痫的表型关系及遗传学提供了新的见解。此外，能够识别出患有这种新发现的常见儿童期起病的全面性遗传性癫痫综合征的大家庭，表明它应成为识别与FS和全面性癫痫相关基因的主要目标。
