(Q35804664)

10 August 2017

Copy number variation plays an important role in clinical epilepsy (English)

1 reference

10 August 2017

Alcy R Torres

37

0 references

Janet S Soul

Janet Soul

33

0 references

Gerard Berry

Gerard T Berry

7

0 references

Sanjeev V Kothare

Sanjeev Kothare

16

0 references

Mustafa Sahin

Mustafa Sahin

29

0 references

Frank H Duffy

8

Frank H Duffy

1 reference

10 August 2017

44

Annapurna Poduri

1 reference

10 August 2017

35

Masanori Takeoka

1 reference

10 August 2017

19

Tobias Loddenkemper

1 reference

10 August 2017

6

Ann M Bergin

1 reference

10 August 2017

9

Yaman Eksioglu

1 reference

10 August 2017

30

Dean Sarco

1 reference

10 August 2017

39

David K Urion

1 reference

10 August 2017

43

David T Miller

1 reference

10 August 2017

Heather Olson

1

1 reference

10 August 2017

Yiping Shen

2

1 reference

10 August 2017

Jennifer Avallone

3

1 reference

10 August 2017

Beth R Sheidley

4

1 reference

10 August 2017

Rebecca Pinsky

5

1 reference

10 August 2017

David J Harris

10

1 reference

10 August 2017

Fuki M Hisama

11

1 reference

10 August 2017

Eugenia Ho

12

1 reference

10 August 2017

Mira Irons

13

1 reference

10 August 2017

Christina M Jacobsen

14

1 reference

10 August 2017

Philip James

15

1 reference

10 August 2017

Omar Khwaja

17

1 reference

10 August 2017

Jonathan Lipton

18

1 reference

10 August 2017

Jennifer Markowitz

20

1 reference

10 August 2017

Kiran Maski

21

1 reference

10 August 2017

J Thomas Megerian

22

1 reference

10 August 2017

Edward Neilan

23

1 reference

10 August 2017

Peter C Raffalli

24

1 reference

10 August 2017

Michael Robbins

25

1 reference

10 August 2017

Amy Roberts

26

1 reference

10 August 2017

Eugene Roe

27

1 reference

10 August 2017

Caitlin Rollins

28

1 reference

10 August 2017

Alison Schonwald

31

1 reference

10 August 2017

Sharon E Smith

32

1 reference

10 August 2017

Joan M Stoler

34

1 reference

10 August 2017

Wen-Han Tan

36

1 reference

10 August 2017

Peter Tsai

38

1 reference

10 August 2017

Laura Weissman

40

1 reference

10 August 2017

Robert Wolff

41

1 reference

10 August 2017

Bai-Lin Wu

42

1 reference

10 August 2017

13 June 2014

1 reference

10 August 2017

1 reference

10 August 2017

75

1 reference

10 August 2017

6

1 reference

10 August 2017

943-958

1 reference

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Chromosomal microarray versus karyotyping for prenatal diagnosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

GABAA Receptor Subunit Mutations and Genetic Epilepsies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Rare copy number variants are an important cause of epileptic encephalopathies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Delineation of 15q13.3 microdeletions.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Clinical genetic testing for patients with autism spectrum disorders

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Population analysis of large copy number variants and hotspots of human genetic disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Association between microdeletion and microduplication at 16p11.2 and autism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Schizophrenia susceptibility gene locus at Xp22.3.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

CDKL5 alterations lead to early epileptic encephalopathy in both genders.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

An emerging 1q21.1 deletion-associated neurodevelopmental phenotype.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Girl with partial Turner syndrome and absence epilepsy.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487364

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.24178

A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.24178

The Xp contiguous deletion syndrome and autism

21 January 2018

1 reference

12 December 2020

West syndrome associated with 14q12 duplications harboring FOXG1

1 reference

12 December 2020

Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq

1 reference

12 December 2020

Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy

1 reference

12 December 2020

Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation

1 reference

12 December 2020

Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters

1 reference

12 December 2020

Investigation of NRXN1 deletions: clinical and molecular characterization

1 reference

12 December 2020

Identifiers

DOI

10.1002/ANA.24178

1 reference

10 August 2017

1 reference

10 August 2017

1 reference