(Q37356327)

19 August 2017

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

1 reference

19 August 2017

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781034%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

author name string

Vincent Strehlow

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781034%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Marielle E M Swinkels

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781034%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Nora Rapps

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781034%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Steffen Syrbe

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781034%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Thomas Dorn

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781034%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Johannes R Lemke

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781034%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

language of work or name

1 reference

24 August 2016

1 reference

19 August 2017

Molecular syndromology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781034%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781034%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781034%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

page(s)

239-246

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781034%20AND%20SRC:MED&resulttype=core&format=json

Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion Syndrome

3 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

The unexpected role of copy number variations in juvenile myoclonic epilepsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

Mutations in EFHC1 cause juvenile myoclonic epilepsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

Epilepsy, hyperalgesia, impaired memory, and loss of pre- and postsynaptic GABA(B) responses in mice lacking GABA(B(1)).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

GABA(B) receptor subunit 1 binds to proteins affected in 22q11 deletion syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

The annual incidence of DiGeorge/velocardiofacial syndrome

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

Clarifying the role of the 22q11.2 microdeletion in juvenile myoclonic epilepsy

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence?

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

Two cases of generalized seizures and the Velocardiofacial syndrome -- a clinically significant association?

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

Replacement of antipsychotic and antiepileptic medication by L-alpha-methyldopa in a woman with velocardiofacial syndrome

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

Myoclonic movement disorder associated with microdeletion of chromosome 22q11.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome).

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

Benign idiopathic partial seizures in the velocardiofacial syndrome: report of two cases.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5073659

Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome

2 September 2018

1 reference

12 December 2020

Schizophrenia-like illness in velo-cardio-facial syndrome

1 reference

12 December 2020

Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion

1 reference

12 December 2020

The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication

1 reference

12 December 2020

Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1159/000448445

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781034%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27781034%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference