Setter(Peter W),Malvey-Dorn(Erika),Steffen... Exp Cell Res 2006-10-19

...efhc1 and efhc2) are present in equimolar ratios to each other and to individual tektins, co-fractionating with loosely ...

Ikeda(Takashi),Ikeda(Kazuho),Enomoto(Masah... FEBS Lett 2005-04-13

The gene product of EFHC1 recently implicated in juvenile myoclonic epilepsy (JME) was found to be a homolog of Chlamydo...

Kamp(M A),Krieger(A),Henry(M),Hescheler(J)... Eur J Neurosci 2005-07-26

...EFHC1 is involved in the aetiology and pathogenesis of juvenile myoclonic epilepsy.

Gardiner(Mark) Epilepsia 2005-12-09

...EFHC1 in 6 of 44 families with JME. Rare sequence variants have been identified in CACNA1H in sporadic patients with chi...

Durón(Reyna M),Medina(Marco T),Martínez-Ju... Epilepsia 2005-12-09

...EFHC1 substantiate juvenile myoclonic epilepsy as a clinical entity. Refined understanding of seizure phenotypes, their ...

Turnbull(Julie),Lohi(Hannes),Kearney(Jenni... Hum Mol Genet 2005-10-27

...EFHC1 gene (unknown function) occur in other rare JME families, and yet in other families, associations are present betw...

Suzuki(Toshimitsu),Delgado-Escueta(Antonio... Nat Genet 2004-09-13

...EFHC1, which encodes a protein with an EF-hand motif. Mutation analyses identified five missense mutations in EFHC1 that...

Coll(Monica),Allegue(Catarina),Partemi(Sar... Int J Legal Med 0000-00-00

...EFHC1 genes, and one case with a rare variant in KCNQ1 gene showed incomplete pattern of inheritance. In four cases, rar...

Bailey(Julia N),Patterson(Christopher),de ... Genet Med 0000-00-00

...EFHC1 functions, whether efhc1 KO mice recapitulate CTC convulsions and "microdysgenesis" neuropathology, and whether su...

Loucks(Catrina M),Bialas(Nathan J),Dekkers... Mol Biol Cell 0000-00-00

...EFHC1 (EF-hand containing 1), a potential PACRG interaction partner similarly associated with the protofilament ribbon a...