Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. - Wikidata - wikimedia - TriplyDB

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

http://www.wikidata.org/entity/Q34651488

about

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.Genes associated with idiopathic epilepsies: a current overview.Animal models of absence epilepsies: what do they model and do sex and sex hormones matter?DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.Meta-analysis identifies seven susceptibility loci involved in the atopic march Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5-6.0 Hz polyspike waves.Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy.Juvenile myoclonic epilepsy: EFHC1 at the cross-roads?Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.EFHC1 mutation in Indian juvenile myoclonic epilepsy patient.

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Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

http://www.wikidata.org/entity/Q34651488

description

2007 nî lūn-bûn

@nan

2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի հուլիսին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

@ast

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

@en

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

@nl

type

label

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

@ast

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

@en

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

@nl

prefLabel

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

@ast

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

@en

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

@nl

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J.1528-1167.2007.01173.X

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

@en

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Aglaia Vignoli

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Amedeo Bianchi

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Carla Marini

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Daniela Buti

http://www.w3.org/2001/XMLSchema#string

Dante Besana

http://www.w3.org/2001/XMLSchema#string

Emilio LePiane

http://www.w3.org/2001/XMLSchema#string

Ferdinanda Annesi

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Francesca Beccaria

http://www.w3.org/2001/XMLSchema#string

Francesca E Rocca

http://www.w3.org/2001/XMLSchema#string

Gaetano Tortorella

http://www.w3.org/2001/XMLSchema#string

P2860

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

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

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

Genome search for susceptibility loci of common idiopathic generalised epilepsies

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

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

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

Mutations in EFHC1 cause juvenile myoclonic epilepsy

Familial clustering of seizure types within the idiopathic generalized epilepsies.

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

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10.1111/J.1528-1167.2007.01173.X

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9

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48

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Antonio Gambardella

Maria Paola Canevini

Roberto Michelucci

Barbara Castellotti

Umberto Aguglia

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2007-07-18T00:00:00Z

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