EFHC1

(redirected from EJM1)

EFHC1

A gene on chromosome 6p12.3 that encodes a widely expressed EF-hand-domain protein thought to enhance calcium influx through CACNA1E and stimulate apoptosis.

Molecular pathology
Defects in EFHC1 cause juvenile myoclonic epilepsy type 1 (a subtype of idiopathic generalised epilepsy) and increase the susceptibility to juvenile absence epilepsy type 1.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
DS+R have exploited this device to transform the space of dance, too, as in Moving Target, 1996, which, based on the diaries of Nijinsky, explored various states of emotion deemed "normal" and "pathological." (11) With EJM1: Man Walking at Ordinary Speed and EJM2: Inertia, both 1998, DS+R again collaborated on dance pieces, here ones that investigated different representations of motion in a way that reached back to the famous photographic studies undertaken by Eadweard Muybridge and Etienne-Jules Marey.