(Q38068314)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23250121%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

review article

1 reference

title

Genetic testing of epileptic encephalopathies of infancy: an approach (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23250121%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1 reference

Suvasini Sharma

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23250121%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Asuri N Prasad

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23250121%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

publication date

1 January 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23250121%20AND%20SRC:MED&resulttype=core&format=json

Canadian Journal of Neurological Sciences

20 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23250121%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

volume

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23250121%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23250121%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

page(s)

10-16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23250121%20AND%20SRC:MED&resulttype=core&format=json

Key clinical features to identify girls with CDKL5 mutations

20 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Electroencephalographic characteristics of Dravet syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Rare copy number variants are an important cause of epileptic encephalopathies

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

The spectrum of SCN1A-related infantile epileptic encephalopathies

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

The phenotypic spectrum of ARX mutations

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Protocadherin 19 mutations in girls with infantile-onset epilepsy.

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

The pharmacologic treatment of Dravet syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

The core Dravet syndrome phenotype

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

The controversy regarding diagnostic criteria for early myoclonic encephalopathy.

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Genes of early-onset epileptic encephalopathies: from genotype to phenotype

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Genetic testing in epilepsy: what should you be doing?

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Epilepsy and the new cytogenetics

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology.

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

The age-dependent epileptic encephalopathies

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Epileptic encephalopathies: a brief overview

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Epileptic encephalopathies in early infancy with suppression-burst

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

De novo SCN1A mutations in migrating partial seizures of infancy

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Epilepsies and epileptic syndromes starting in the neonatal period

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

CDKL5 alterations lead to early epileptic encephalopathy in both genders.

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

The genetics of Dravet syndrome.

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100012889

7 January 2021

10.1017/S0317167100012889

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23250121%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

1 reference