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Lessons learned from gene identification studies in Mendelian epilepsy disorders.
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Europe PubMed Central
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5070902
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1 March 2020
title
Lessons learned from gene identification studies in Mendelian epilepsy disorders
(English)
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5070902
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1 March 2020
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lessons learned
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Sarah Weckhuysen
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2
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5070902
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1 March 2020
Arvid Suls
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5070902
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1 March 2020
Peter De Jonghe
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Peter De Jonghe
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1 March 2020
Katia Hardies
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Katia Hardies
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1 March 2020
publication date
25 November 2015
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1 March 2020
published in
European Journal of Human Genetics
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Europe PubMed Central
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5070902
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1 March 2020
volume
24
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Europe PubMed Central
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5070902
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1 March 2020
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961-967
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1 March 2020
issue
7
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Europe PubMed Central
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5070902
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26603999%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 March 2020
exact match
https://scigraph.springernature.com/pub.10.1038/ejhg.2015.251
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Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities
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Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation
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A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy
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GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy
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De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome
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Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy
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6 September 2017
The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy
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6 September 2017
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation
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De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy
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6 September 2017
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum
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Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy
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6 September 2017
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
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6 September 2017
Mutations of DEPDC5 cause autosomal dominant focal epilepsies
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6 September 2017
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
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Recent advances in the molecular genetics of epilepsy.
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6 September 2017
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
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6 September 2017
Inferring causality and functional significance of human coding DNA variants
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6 September 2017
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
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6 September 2017
Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders
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6 September 2017
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
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6 September 2017
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP
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Disease gene identification strategies for exome sequencing
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6 September 2017
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
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6 September 2017
Rare copy number variants are an important cause of epileptic encephalopathies
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6 September 2017
Performance comparison of exome DNA sequencing technologies
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6 September 2017
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6 September 2017
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
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6 September 2017
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
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6 September 2017
Sequencing technologies - the next generation
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6 September 2017
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
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6 September 2017
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6 September 2017
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6 September 2017
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14 September 2017
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings
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Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
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31 August 2018
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy
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31 August 2018
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.
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31 August 2018
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy
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31 August 2018
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
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31 August 2018
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5070902
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31 August 2018
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy
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31 August 2018
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia
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31 August 2018
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.
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31 August 2018
The genetic landscape of infantile spasms
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1 October 2018
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
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21 January 2018
Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene
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3 December 2018
Targeted next generation sequencing as a diagnostic tool in epileptic disorders
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https://pubmed.ncbi.nlm.nih.gov/26603999
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Diagnostic yield of clinical next-generation sequencing panels for epilepsy
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/26603999
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1038/EJHG.2015.251
1 reference
stated in
Europe PubMed Central
PMCID
5070902
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26603999%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 March 2020
PMCID
5070902
1 reference
stated in
Europe PubMed Central
PMCID
5070902
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26603999%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 March 2020
PubMed ID
26603999
1 reference
stated in
Europe PubMed Central
PMCID
5070902
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26603999%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 March 2020
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