(Q34651488)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17634063%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

title

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy (English)

1 reference

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2 January 2020

0 references

1 reference

14

1 reference

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2 January 2020

Antonio Gambardella

2

1 reference

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2 January 2020

Roberto Michelucci

3

1 reference

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2 January 2020

Maria Paola Canevini

6

1 reference

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2 January 2020

Maurizio Elia

8

1 reference

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2 January 2020

Barbara Castellotti

13

1 reference

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2 January 2020

Angelo Labate

15

1 reference

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2 January 2020

Umberto Aguglia

26

1 reference

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2 January 2020

Aldo Quattrone

28

1 reference

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2 January 2020

24

Grazia Annesi

1 reference

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2 January 2020

27

Renzo Guerrini

1 reference

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2 January 2020

author name string

Ferdinanda Annesi

1

1 reference

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2 January 2020

Amedeo Bianchi

4

1 reference

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2 January 2020

Carla Marini

5

1 reference

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2 January 2020

Giuseppe Capovilla

7

1 reference

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2 January 2020

Daniela Buti

9

1 reference

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2 January 2020

Rosanna Chifari

10

1 reference

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2 January 2020

Pasquale Striano

11

1 reference

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2 January 2020

Francesca E Rocca

12

1 reference

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2 January 2020

Dante Besana

17

1 reference

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2 January 2020

Vito Sofia

18

1 reference

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2 January 2020

Giulietta Tabiadon

19

1 reference

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2 January 2020

Gaetano Tortorella

20

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2 January 2020

Piernanda Vigliano

21

1 reference

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2 January 2020

Aglaia Vignoli

22

1 reference

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2 January 2020

Francesca Beccaria

23

1 reference

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2 January 2020

Salvatore Striano

25

1 reference

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2 January 2020

Emilio LePiane

16

1 reference

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2 January 2020

publication date

18 July 2007

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2 January 2020

1 reference

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2 January 2020

volume

48

1 reference

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2 January 2020

issue

9

1 reference

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2 January 2020

page(s)

1686-1690

1 reference

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Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

2 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

Epilepsy with impulsive petit mal (Juvenile Myoclonic Epilepsy)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

Genome search for susceptibility loci of common idiopathic generalised epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

Mutations in EFHC1 cause juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

Identification of a new JME gene implicates reduced apoptotic neuronal death as a mechanism of epileptogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

Familial clustering of seizure types within the idiopathic generalized epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X

Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2007.01173.X