EFHC1

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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 ?
With the exception of the 1925 JAE, whose new entrant contingent made up 13.3 per cent of the JAE members, the percentage of the new entrants in each JAE ranged between a low of 23.1 and a high of 58.3.
Although her book is not autobiographical in the strict sense, you suspect that Jae has something in common with her main character, Marianne, who travels to India with her new friend Sara after the London bombings in July 2005.
Klose followed that effort with a tame header into Jae's arm's after a cross from Ballack.
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They first ran the rule over Sumatran tiger Jae Jae who, at a stretch, was 6ft 6in tall.
It will be home to two Sumatran tigers, Jae Jae and Melati.
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Lee Mal Jae, chairman of the forum lauded the vision of the Qatari leadership.