(Q28272490)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258581%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Mutations in EFHC1 cause juvenile myoclonic epilepsy (English)

1 reference

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Voltage-dependent R-type calcium channel subunit alpha-1E

30 December 2019

main subject

1 reference

EF-hand domain (C-terminal) containing 1

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

myoclonic epilepsy

1 reference

juvenile myoclonic epilepsy

inferred from title

1 reference

1

1 reference

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Antonio V Delgado-Escueta

30 December 2019

2

1 reference

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30 December 2019

Motohiro Nishida

7

1 reference

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30 December 2019

Tomohiro Numata

8

1 reference

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30 December 2019

Marco Tulio Medina

9

1 reference

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30 December 2019

Aurelio Jara-Prado

18

1 reference

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30 December 2019

Kazuhiro Yamakawa

28

1 reference

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30 December 2019

author name string

Kripamoy Aguan

3

1 reference

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30 December 2019

Maria E Alonso

4

1 reference

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30 December 2019

Jun Shi

5

1 reference

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30 December 2019

Yuji Hara

6

1 reference

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30 December 2019

Tamaki Takeuchi

10

1 reference

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30 December 2019

Ryoji Morita

11

1 reference

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30 December 2019

Dongsheng Bai

12

1 reference

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30 December 2019

Subramaniam Ganesh

13

1 reference

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30 December 2019

Yoshihisa Sugimoto

14

1 reference

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30 December 2019

Johji Inazawa

15

1 reference

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30 December 2019

Julia N Bailey

16

1 reference

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30 December 2019

Adriana Ochoa

17

1 reference

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30 December 2019

Astrid Rasmussen

19

1 reference

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30 December 2019

Jaime Ramos-Peek

20

1 reference

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30 December 2019

Sergio Cordova

21

1 reference

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30 December 2019

Francisco Rubio-Donnadieu

22

1 reference

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30 December 2019

Yushi Inoue

23

1 reference

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30 December 2019

Makiko Osawa

24

1 reference

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30 December 2019

Sunao Kaneko

25

1 reference

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30 December 2019

Hirokazu Oguni

26

1 reference

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30 December 2019

Yasuo Mori

27

1 reference

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30 December 2019

language of work or name

English

0 references

publication date

18 July 2004

1 reference

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30 December 2019

1 reference

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30 December 2019

volume

36

1 reference

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30 December 2019

issue

8

1 reference

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30 December 2019

page(s)

842-849

1 reference

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BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy

30 December 2019

cites work

1 reference

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

21 April 2017

1 reference

Absence epilepsy in tottering mutant mice is associated with calcium channel defects

21 April 2017

1 reference

Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel

21 April 2017

1 reference

Structure and regulation of voltage-gated Ca2+ channels

21 April 2017

1 reference

Altered pain responses in mice lacking alpha 1E subunit of the voltage-dependent Ca2+ channel.

21 April 2017

1 reference

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

21 April 2017

1 reference

Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families.

21 April 2017

1 reference

Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6

21 January 2018

1 reference

Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy

21 January 2018

1 reference

Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5.

21 January 2018

1 reference

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

21 January 2018

1 reference

Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse

21 January 2018

1 reference

The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit.

21 January 2018

1 reference

Selective peptide antagonist of the class E calcium channel from the venom of the tarantula Hysterocrates gigas

21 January 2018

1 reference

Quantitative MRI in patients with idiopathic generalized epilepsy. Evidence of widespread cerebral structural changes

21 January 2018

1 reference

Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map.

21 January 2018

1 reference

Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24.

21 January 2018

1 reference

Molecular cloning and characterization of a novel calcium channel from rabbit brain

21 January 2018

1 reference

Formation of an Endophilin-Ca2+ Channel Complex Is Critical for Clathrin-Mediated Synaptic Vesicle Endocytosis

21 January 2018

1 reference

21 January 2018

1 reference

7 January 2021

Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations

1 reference

7 January 2021

Evidence for linkage between juvenile myoclonic epilepsy-related idiopathic generalized epilepsy and 6p11-12 in Dutch families

1 reference

7 January 2021

Intracellular neuronal calcium sensor proteins: a family of EF-hand calcium-binding proteins in search of a function

1 reference

7 January 2021

Biochemical properties and subcellular distribution of the neuronal class E calcium channel alpha 1 subunit

1 reference

7 January 2021

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG1393

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15258581%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017