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Clinical and Genetic Analysis of a New Multigenerational Pedigree with GEFS + (Generalized Epilepsy with Febrile Seizures Plus)
Author(s) -
Gérard Frédérique,
Pereira Sandrine,
RobagliaSchlupp Andrée,
Genton Pierre,
Szepetowski Pierre
Publication year - 2002
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1046/j.1528-1157.2002.43001.x
Subject(s) - epilepsy , febrile seizure , genetic linkage , pediatrics , generalized epilepsy , medicine , neurological disorder , epilepsy syndromes , candidate gene , genetics , biology , central nervous system disease , gene , psychiatry
Summary: Febrile seizures affect 2–5% of all children younger than 6 years. A small proportion of children with febrile seizures later develop epilepsy. The syndrome of generalized epilepsy with febrile seizures plus (GEFS + ) is a heterogeneous disorder characterized by febrile seizures that may persist beyond age 6 years and nonfebrile seizures. Several genes have been localized for FS by linkage analysis, and three GEFS + genes ( SCN1A, SCN1B, GABRG2 ) have been identified. We identified a large multigenerational family with GEFS + in France. All affected members had FSs. Among them, seven had other types of epileptic seizures including FSs after age 6 years, nonfebrile generalized seizures, or partial seizures later in life. Genetic linkage study excluded the candidate genes and loci for FS and GEFS + , thus proving the existence of a new GEFS + genetic locus underlying the phenotype observed in this family.