de Nijs(Laurence),Wolkoff(Nathalie),Couman... Hum Mol Genet 2013-04-12

Heterozygous mutations in Myoclonin1/EFHC1 cause juvenile myoclonic epilepsy (JME), the most common form of genetic gene...

Rossetto(Maria Giovanna),Zanarella(Erica),... Hum Mol Genet 2012-01-31

...EFHC1 gene have been linked to juvenile myoclonic epilepsy. To understand EFHC1 function in vivo, we generated knockout ...

Jara-Prado(Aurelio),Martínez-Juárez(Iris E... Seizure 2012-11-20

...EFHC1 mutations in our sample is 7.3%. Thus, we conclude that mutations in the Myoclonin1/EFHC1 gene are an important ca...

Berger(Itai),Dor(Talya),Halvardson(Jonatan... Epilepsia 2012-10-26

...EFHC1 gene was previously shown, in a carrier state, to be associated with juvenile myoclonic epilepsy.,Although heteroz...

Narita(Keishi),Kozuka-Hata(Hiroko),Nonami(... Biol Open 2012-12-06

...Efhc1-mediated mechanism to regulate the beating frequency was shared in both types of cilia. Notably, ultrastructural a...

Katano(Masahiro),Numata(Tomohiro),Aguan(Kr... Cell Calcium 2012-06-08

...EFHC1 protein. Coexpression of EFHC1 significantly potentiates hydrogen peroxide (H(2)O(2))- and ADPR-induced Ca(2+) res...

Delgado-Escueta(Antonio V) Epilepsy Curr 2010-06-18

...EFHC1) and 2 SNP-susceptibility alleles of putative JME genes in epistases (bromodomain-containing protein 2 [BRD2] and ...

Conte(Fábio F),Ribeiro(Patrícia A O),March... J Mol Neurosci 2010-02-12

...EFHC1. We report here the expression profile and distribution of Efhc1 messenger RNA (mRNA) during mouse and rat brain d...

Léon(Christine),de Nijs(Laurence),Chanas(G... Epilepsy Res 2010-05-03

EFHC1, a gene mutated in juvenile myoclonic epilepsy, encodes EFHC1, a protein with three DM10 domains and one EF-hand m...

Hellman(Nathan E),Liu(Yan),Merkel(Erin),Au... Proc Natl Acad Sci U S A 2010-11-22

...efhc1, tektin-1, and dnahc9. foxj1a-deficient embryos failed to up-regulate efhc1, tektin-1, and dnahc9 and could not ma...