Bai(Dongsheng),Bailey(Julia N),Durón(Reyna... Epilepsia 2009-06-22

...EFHC1) in chromosome 6p12. We observed one doubly heterozygous and three heterozygous missense mutations in EFHC1 segreg...

de Nijs(Laurence),Léon(Christine),Nguyen(L... Nat Neurosci 2009-10-13

...EFHC1 is a microtubule-associated protein involved in the regulation of cell division. In vitro, EFHC1 loss of function ...

Suzuki(Toshimitsu),Miyamoto(Hiroyuki),Naka... Hum Mol Genet 2009-05-18

Mutations in EFHC1 gene have been previously reported in patients with epilepsies, including those with juvenile myoclon...

Poot(Martin),van't Slot(Ruben),Leupert(Rom... Eur J Med Genet 2009-04-28

...EFHC1, and TRAM2 genes, and an 11.9 Mb loss in region 6q14.3-q16.1, reported previously, were mapped on the rearranged c...

Murai(Marcelo J),Sassonia(Rogério C),Zambo... Arch Biochem Biophys 2008-09-10

...EFHC1C-terminus (residues 403-640; named EFHC1C), comprising the last DM10 domain and the EF-hand motif. Circular dichro...

Medina(M T),Suzuki(T),Alonso(M E),Durón(R ... Neurology 2008-07-01

...EFHC1 of chromosome 6p12.1 segregating in 20% of Hispanic families with JME.,To examine what percentage of consecutive J...

Suzuki(Toshimitsu),Inoue(Ikuyo),Yamagata(T... Biochem Biophys Res Commun 2008-03-07

...Efhc1-deficient mice as negative controls. Results of Efhc1 mRNA in situ hybridization were also consistent with the imm...

Bartocci(A),Elia(M),Calì(F),Tiacci(C),Cant... Neurol Sci 2008-01-17

...EFHC1 gene; and a polymorphism (T-->C) of the exon of the GABRA1 gene, without aminoacidic exchange. In the literature t...

Lucarini(Nazzareno),Verrotti(Alberto),Napo... Pediatr Neurol 2007-12-14

...EFHC1, and EFHC2). We review the main genetic polymorphisms reported in idiopathic generalized epilepsy, and discusses t...

Stogmann(E),Lichtner(P),Baumgartner(C),Bon... Neurology 2007-01-08

We sequenced 61 patients with various idiopathic generalized epilepsy (IGE) syndromes for mutations in the EFHC1 gene. W...