Title: Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation
Authors: Deprez, Liesbet ×
Claes, Lieve R F
Claeys, Kristl
Audenaert, Dominique
Van Dyck, Tine
Goossens, D
Van Paesschen, Wim
Del-Favero, Jurgen
Van Broeckhoven, Christine
De Jonghe, Peter #
Issue Date: 2006
Publisher: Springer-Verlag
Series Title: Human Genetics vol:118 issue:5 pages:618-625
Abstract: Febrile seizures (FS) represent the most common seizure disorder in childhood and contribution of a genetic predisposition has been clearly proven. In some families FS is associated with a wide variety of afebrile seizures. Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with a spectrum of phenotypes including FS, atypical febrile seizures (FS+) and afebrile generalized and partial seizures. Mutations in the genes SCN1B, SCN1A and GABRG2 were identified in GEFS+ families. GEFS+ is genetically heterogeneous and mutations in these three genes were detected in only a minority of the families. We performed a 10 cM density genome-wide scan in a multigenerational family with febrile seizures and epilepsy and obtained a maximal multipoint LOD score of 3.12 with markers on chromosome 5q14.3-q23.1. Fine mapping and segregation analysis defined a genetic interval of approximately 33 cM between D5S2103 and D5S1975. This candidate region overlapped with a previously reported locus for febrile seizures (FEB4) in the Japanese population, in which MASS1 was proposed as disease gene. Mutation analysis of the exons and exon-intron boundaries of MASS1 in our family did not reveal a disease causing mutation. Our linkage data confirm for the first time that a locus on chromosome 5q14-q23 plays a role in idiopathic epilepsies. However, our mutation data is negative and do not support a role for MASS1 suggesting that another gene within or near the FEB4 locus might exist.
ISSN: 0340-6717
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Muscle Diseases and Neuropathies
Research Group Experimental Neurology
Consumer Competition & Market
Laboratory for Epilepsy Research
× corresponding author
# (joint) last author

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