title: Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.
abstract: We sequenced 61 patients with various idiopathic generalized epilepsy (IGE) syndromes for mutations in the EFHC1 gene. We detected three novel heterozygous missense mutations (I174V, C259Y, A394S) and one possibly pathogenic variant in the 3' UTR (2014t>c). The mutation I174V was also detected in 1 of 372 screened patients with temporal lobe epilepsy. We conclude that mutations in the EFHC1 gene may underlie different types of epilepsy syndromes.
authors.affiliation: Department of Neurology, Medical University of Vienna, Vienna, Austria.
authors.forename: E
authors.initials: E
authors.lastname: Stogmann
authors.forename: P
authors.initials: P
authors.lastname: Lichtner
authors.forename: C
authors.initials: C
authors.lastname: Baumgartner
authors.forename: S
authors.initials: S
authors.lastname: Bonelli
authors.forename: E
authors.initials: E
authors.lastname: Assem-Hilger
authors.forename: F
authors.initials: F
authors.lastname: Leutmezer
authors.forename: M
authors.initials: M
authors.lastname: Schmied
authors.forename: C
authors.initials: C
authors.lastname: Hotzy
authors.forename: T M
authors.initials: TM
authors.lastname: Strom
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
authors.forename: F
authors.initials: F
authors.lastname: Zimprich
authors.forename: A
authors.initials: A
authors.lastname: Zimprich
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D000328:Adult; D002135:Calcium-Binding Proteins / Q000235:genetics*; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D013577:Syndrome
chemical_list: D020413:3' Untranslated Regions; D002135:Calcium-Binding Proteins; C489648:EFHC1 protein, human