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.
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.
Bernat Sureda lo deja bien explicitado en el prologo de este libro, cuando anuncia la merecida valoracion del esfuerzo de la JAE, tanto como el mezquino olvido, ocultamiento y postracion a que fue sometida por la dictadura franquista.
De hecho, la JAE "dio vida" a lo que se conocera como el LSM el 14 de enero de 1915: 1) al establecer, no un nuevo "centro", sino unas nuevas "actividades", una seccion de "Trabajos de Matematicas" en el seno del Instituto Nacional de Ciencias Fisico-Naturales; 2) al dedicar en sus presupuestos para ese ano una partida de 3.360 pesetas para dichos "Trabajos de Matematicas"; y 3) al designar a Julio Rey Pastor para dirigir esos "Trabajos" con la colaboracion de Sixto Camara Tecedor (Escribano 2000) (4).
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.
TOP DOG Jae Bowen beats team-mate and celebrates, right
Saphere Jae Espley, three, touched the hearts of Teessiders after her mum Natalie Wood, 27, revealed how she suffered two cruel health blows - a diagnosis of nephrotic syndrome in both kidneys followed by a brain tumour diagnosis - just three weeks apart.
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.
M2 EQUITYBITES-February 5, 2013-Rambus names Jae Kim as SVP and general counsel(C)2013 M2 COMMUNICATIONS http://www.m2.com
Lee Mal Jae, chairman of the forum lauded the vision of the Qatari leadership.