Genetic epilepsy with febrile seizures plus Refining the spectrum

被引：107

作者：

Zhang, Yue-Hua ^{[1
,2
]}

Burgess, Rosemary ^{[1
]}

Malone, Jodie P. ^{[1
]}

Glubb, Georgie C. ^{[1
]}

Helbig, Katherine L. ^{[1
]}

Vadlamudi, Lata ^{[1
,3
]}

Kivity, Sara ^{[4
]}

Afawi, Zaid ^{[5
]}

Bleasel, Andrew ^{[6
]}

Grattan-Smith, Padraic ^{[7
]}

Grinton, Bronwyn E. ^{[1
]}

Bellows, Susannah T. ^{[1
]}

Vears, Danya F. ^{[1
]}

Damiano, John A. ^{[1
]}

Goldberg-Stern, Hadassa ^{[4
]}

Korczyn, Amos D. ^{[8
]}

Dibbens, Leanne M. ^{[9
]}

Ruzzo, Elizabeth K. ^{[10
]}

Hildebrand, Michael S. ^{[1
]}

Berkovic, Samuel F. ^{[1
]}

Scheffer, Ingrid E. ^{[1
,11
,12
]}

机构：

[1] Univ Melbourne, Epilepsy Res Ctr, Dept Med, Austin Hlth, Melbourne, Vic, Australia

[2] Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China

[3] Univ Queensland, Royal Brisbane & Womens Hosp, Ctr Clin Res, Dept Neurol, Brisbane, Qld, Australia

[4] Schneider Childrens Med Ctr Israel, Petah Tiqwa, Israel

[5] Tel Aviv Sourasky Med Ctr, Dept Neurol, Tel Aviv, Israel

[6] Westmead Hosp, Westmead, NSW, Australia

[7] Sydney Childrens Hosp, Dept Neurol, Randwick, NSW, Australia

[8] Tel Aviv Univ, Dept Neurol, Tel Aviv, Israel

[9] Univ Adelaide, Womens & Childrens Hosp, Adelaide, SA, Australia

[10] Univ Calif Los Angeles, David Geffen Sch Med, Semel Inst, Ctr Neurobehav Genet, Los Angeles, CA 90095 USA

[11] Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia

[12] Florey Inst Neurosci & Mental Hlth, Melbourne, Vic, Australia

来源：

NEUROLOGY | 2017年 / 89卷 / 12期

基金：

英国医学研究理事会;

关键词：

CHILDHOOD ABSENCE EPILEPSY; NEURONAL SODIUM-CHANNEL; GENERALIZED EPILEPSY; ILAE COMMISSION; POSITION PAPER; SCN1A; MUTATIONS; CLASSIFICATION; VARIANTS; FAMILIES;

D O I：

10.1212/WNL.0000000000004384

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective: Following our original description of generalized epilepsy with febrile seizures plus (GEFS1) in 1997, we analyze the phenotypic spectrum in 409 affected individuals in 60 families (31 new families) and expand the GEFS1 spectrum. Methods: We performed detailed electroclinical phenotyping on all available affected family members. Genetic analysis of known GEFS1 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 GEFS1 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 GEFS1 (178/409 [44%]), followed by febrile seizures plus (111/409 [27%]). One third (50/163 [31%]) of GEFS1 families tested have a pathogenic variant in a known GEFS1 gene. Conclusion: As 37/409 (9%) affected individuals have focal epilepsies, we suggest that GEFS1 be renamed genetic epilepsy with febrile seizures plus rather than generalized epilepsy with febrile seizures plus. The phenotypic overlap between GEFS1 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.

引用

页码：1210 / 1219

页数：10

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