(Q38644331)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26597089%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

The genetic landscape of the epileptic encephalopathies of infancy and childhood (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26597089%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26597089%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Ingrid Scheffer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26597089%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

author name string

Katherine B Howell

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26597089%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

J Helen Cross

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26597089%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Manju A Kurian

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26597089%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

publication date

17 November 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26597089%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26597089%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26597089%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26597089%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

page(s)

304-316

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26597089%20AND%20SRC:MED&resulttype=core&format=json

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

1 March 2020

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7 January 2021

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7 January 2021

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7 January 2021

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

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7 January 2021

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

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7 January 2021

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

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7 January 2021

Rare copy number variants are an important cause of epileptic encephalopathies

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7 January 2021

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7 January 2021

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

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7 January 2021

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7 January 2021

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7 January 2021

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

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7 January 2021

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7 January 2021

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7 January 2021

An evaluation of the links between microRNA, autophagy, and epilepsy

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

The genetic landscape of infantile spasms

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7 January 2021

CHD2 mutations in Lennox-Gastaut syndrome

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7 January 2021

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7 January 2021

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

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7 January 2021

A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder

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7 January 2021

Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings

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7 January 2021

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

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7 January 2021

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy

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7 January 2021

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

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7 January 2021

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

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7 January 2021

Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes

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7 January 2021

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

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7 January 2021

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

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7 January 2021

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

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7 January 2021

The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.

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7 January 2021

The pharmacologic treatment of Dravet syndrome

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7 January 2021

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated

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7 January 2021

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

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7 January 2021

Computational and statistical approaches to analyzing variants identified by exome sequencing

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7 January 2021

Accurate whole human genome sequencing using reversible terminator chemistry

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7 January 2021

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain

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7 January 2021

GLUT1 deficiency syndrome in clinical practice

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7 January 2021

Blue-gray mucocutaneous discoloration: a new adverse effect of ezogabine.

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7 January 2021

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

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7 January 2021

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

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7 January 2021

Targeted treatment of migrating partial seizures of infancy with quinidine

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7 January 2021

Quinidine in the treatment of KCNT1-positive epilepsies

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7 January 2021

Reconstitution of the vital functions of Munc18 and Munc13 in neurotransmitter release

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7 January 2021

Developing a PPI inhibitor-based therapy for STXBP1 haploinsufficiency-associated epileptic disorders

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7 January 2021

Inhibition of α-helix-mediated protein-protein interactions using designed molecules

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7 January 2021

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism

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7 January 2021

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

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7 January 2021

The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through.

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7 January 2021

Optogenetic and potassium channel gene therapy in a rodent model of focal neocortical epilepsy

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7 January 2021

Gene therapy in epilepsy-is it time for clinical trials?

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7 January 2021

Chemical-genetic attenuation of focal neocortical seizures

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7 January 2021

Allele-specific RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes

1 reference

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7 January 2021

10.1016/S1474-4422(15)00250-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26597089%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference