Developments in Molecular Genetic Diagnostics: An Update for the Pediatric Epilepsy Specialist (Q37863822)

24 August 2017

1 reference

title

Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist (English)

1 reference

24 August 2017

Developments in Molecular Genetic Diagnostics: An Update for the Pediatric Epilepsy Specialist (English)

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

29 November 2024

author name string

Amanda W. Pong

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21481738

29 November 2024

Deb K. Pal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21481738

29 November 2024

Wendy K. Chung

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21481738

29 November 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21481738

29 November 2024

publication date

1 May 2011

1 reference

24 August 2017

May 2011

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21481738

full work available at URL

29 November 2024

https://api.elsevier.com/content/article/PII:S0887899411000671?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

https://api.elsevier.com/content/article/PII:S0887899411000671?httpAccept=text/plain

29 November 2024

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

29 November 2024

1 reference

24 August 2017

volume

44

1 reference

24 August 2017

issue

5

1 reference

24 August 2017

page(s)

317-327

1 reference

Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all.

24 August 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Genetic evaluation and counseling for epilepsy

29 November 2024

2

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Genetic testing in the epilepsies--report of the ILAE Genetics Commission

29 November 2024

3

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Role of genetics in the diagnosis and treatment of epilepsy

29 November 2024

4

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics.

29 November 2024

5

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

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

29 November 2024

6

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies

29 November 2024

7

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Spectrum of epilepsy in terminal 1p36 deletion syndrome

29 November 2024

8

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

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

29 November 2024

9

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

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

29 November 2024

10

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

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

29 November 2024

11

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

29 November 2024

12

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

29 November 2024

13

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

29 November 2024

14

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Ethical, legal, and social dimensions of epilepsy genetics

29 November 2024

15

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Views of discrimination among individuals confronting genetic disease

29 November 2024

16

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental Delay

29 November 2024

17

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects

29 November 2024

18

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome.

29 November 2024

19

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

The state of the art in the genetic analysis of the epilepsies

29 November 2024

20

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Genetics of epilepsy syndromes starting in the first year of life

29 November 2024

21

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Genetic risk perception and reproductive decision making among people with epilepsy

29 November 2024

22

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003.

29 November 2024

23

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Five years’ experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles

29 November 2024

24

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Disparities in family planning

29 November 2024

25

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Antiepileptic drugs during pregnancy: what is known and which AEDs seem to be safest?

29 November 2024

26

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta.

29 November 2024

27

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Infantile spasms: Toward a selective diagnostic and therapeutic approach

29 November 2024

28

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Infantile spasms: a U.S. consensus report.

29 November 2024

29

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

29 November 2024

30

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes

29 November 2024

31

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Sodium channel SCN1A and epilepsy: mutations and mechanisms

29 November 2024

32

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

29 November 2024

33

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

The spectrum of SCN1A-related infantile epileptic encephalopathies

29 November 2024

34

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

29 November 2024

36

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Seizure Characterization and Electroencephalographic Features in Glut‐1 Deficiency Syndrome

29 November 2024

38

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

29 November 2024

39

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

29 November 2024

40

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Characterization of seizures associated with biotinidase deficiency

29 November 2024

41

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Biotinidase deficiency: novel mutations and their biochemical and clinical correlates

29 November 2024

42

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Leigh and Leigh-like syndrome in children and adults

29 November 2024

44

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Molecular diagnosis of Menkes disease: genotype-phenotype correlation.

29 November 2024

45

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

29 November 2024

Menkes disease

46

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation

29 November 2024

47

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Genetics of molybdenum cofactor deficiency

29 November 2024

48

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Disorders of purine and pyrimidine metabolism

29 November 2024

49

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

29 November 2024

50

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

29 November 2024

51

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Epilepsy and mental retardation limited to females: an under-recognized disorder

29 November 2024

52

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

29 November 2024

54

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Creatine and creatine deficiency syndromes: biochemical and clinical aspects

29 November 2024

55

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

The role of the nicotinic acetylcholine receptors in sleep-related epilepsy

29 November 2024

56

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Polymerase gamma 1 mutations: clinical correlations

29 November 2024

57

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

POLG1 mutations associated with progressive encephalopathy in childhood

29 November 2024

58

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

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

29 November 2024

59

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

LGI1 mutations in autosomal dominant partial epilepsy with auditory features

29 November 2024

60

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

29 November 2024

62

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

The autosomal recessively inherited progressive myoclonus epilepsies and their genes

29 November 2024

63

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioral disturbances: case analysis with literature review

29 November 2024

65

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Unverricht-Lundborg disease (EPM1)

29 November 2024

67

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Progressive Myoclonus Epilepsy, Lafora Type

29 November 2024

68

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters

29 November 2024

69

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Epilepsy and the natural history of Rett syndrome.

29 November 2024

71

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Epilepsy caused by CDKL5 mutations.

29 November 2024

72

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Epilepsy in Rett syndrome: clinical and genetic features.

29 November 2024

73

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated Syndrome

29 November 2024

77

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

A study of ring 20 chromosome karyotype with epilepsy

29 November 2024

78

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Infantile spasms associated with proximal duplication of chromosome 15q

29 November 2024

79

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

29 November 2024

80

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Identification of a marker chromosome as inv dup(15) by molecular analysis

29 November 2024

81

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Genetic aspects of neurocutaneous disorders

29 November 2024

83

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

29 November 2024

85

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Neuronal migration disorders: clinical, neuroradiologic and genetics aspects

29 November 2024

87

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

29 November 2024

88

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects

29 November 2024

90

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

29 November 2024

91

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

29 November 2024

92

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

29 November 2024

93

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Genetic and neuroradiological heterogeneity of double cortex syndrome

29 November 2024

94

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

29 November 2024

95

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Pediatric Congenital Bilateral Perisylvian Syndrome: Clinical and MRI Features in 12 Patients

29 November 2024

97

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment

29 November 2024

98

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

A locus for bilateral perisylvian polymicrogyria maps to Xq28

29 November 2024

99

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

SRPX2 mutations in disorders of language cortex and cognition

29 November 2024

100

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

G protein-coupled receptor-dependent development of human frontal cortex

29 November 2024

101

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

Dentatorubropallidoluysian atrophy without involuntary movement or dementia--a case report

29 November 2024

103

1 reference

https://api.crossref.org/works/10.1016/J.PEDIATRNEUROL.2011.01.017

29 November 2024

Identifiers

1 reference

24 August 2017

1 reference