Suzuki(T),Tatsukawa(T),Sudo(G),Miyamoto(H)... Mol Cell Neurosci 2026-06-00

...Efhc1 deficiency and contributes to the pathophysiology of epilepsies associated with EFHC1 mutations.

Nishida(S),An(B),Uchida(H),Zenno(S),Nojima... Stem Cell Reports 2026-08-20

...EFHC1 promoter. Knockdown of pancEFHC1 in human NSCs increased DNA methylation to reduce EFHC1 expression, with the resu...

Marenholz(Ingo),Esparza-Gordillo(Jorge),Rü... Nat Commun 2016-05-10

...EFHC1 on chromosome 6p12.3 (OR 1.27; P=2.1 × 10(-8)) and rs993226 between TMTC2 and SLC6A15 on chromosome 12q21.3 (OR 1....

Zhao(Ying),Shi(Jianli),Winey(Mark),Klymkow... Dev Biol 2016-08-03

...EFHC1b morpholino's Wnt8a, CNS, and neural crest phenotypes were rescued by a truncated form of EFHC1b. The EFHC1b morph...

von Podewils(Felix),Kowoll(Victoria),Schro... Epilepsy Behav 2015-12-01

...EFHC1 exons and adjacent exon/intron boundaries were directly sequenced.,The previously reported EFHC1 mutation F229L wa...

Subaran(Ryan L),Conte(Juliette M),Stewart(... Epilepsia 2015-05-07

...EFHC1 mutations across multiple population samples.,To find and test variants of large effect, we sequenced all EFHC1 ex...

Craiu(Dana) Epilepsy Behav 2014-01-27

...EFHC1 gene mutations leading to microdysgenesis and possible aberrant circuitry. Imaging studies have shown massive stru...

Delgado-Escueta(Antonio V),Koeleman(Bobby ... Epilepsy Behav 2014-01-27

...EFHC1. Three SNP alleles in BRD2, Cx-36, and ME2 and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute ri...

de Nijs(Laurence),Wolkoff(Nathalie),Grisar... Epilepsy Behav 2014-01-27

...EFHC1 (EF-hand containing one) account for 3 to 9% of all cases around the world. This gene encodes a protein that is no...

Yamakawa(Kazuhiro),Suzuki(Toshimitsu) Epilepsy Behav 2014-01-27

...EFHC1 gene cause juvenile myoclonic epilepsy (JME). We previously showed that myoclonin1 protein encoded by EFHC1 is exp...