Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome. - Test2 - elhamkhani - TriplyDB

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

http://www.wikidata.org/entity/Q37356327

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A Case of 22q11 Deletion Syndrome (22q11DS) with a Panayiotopoulos Epileptic Pattern: Are Additional Copy-Number Variations a Possible Second Hit in Modulating the 22q11DS Phenotype?

P2860

Q41900277-B127B3EC-D839-4B45-AFCA-33D21A0DDDB0

P2860

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

http://www.wikidata.org/entity/Q37356327

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 24 August 2016

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vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

@en

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

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type

label

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

@en

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

@nl

prefLabel

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

@en

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

@nl

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Molecular syndromology

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Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

@en

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Johannes R Lemke

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

Marielle E M Swinkels

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Nora Rapps

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

Steffen Syrbe

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Thomas Dorn

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Vincent Strehlow

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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 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 EFHC1 cause juvenile myoclonic epilepsy

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy.

P304

239-246

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scholarly article

P356

10.1159/000448445

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4

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7

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2016-08-24T00:00:00Z

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27781034

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5073659

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