(Q38485872)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25982265%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

title

Genetic mutations associated with status epilepticus (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25982265%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

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1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25982265%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Simon D Shorvon

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25982265%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

author name string

M Bhatnagar

series ordinal

1

1 reference

3 September 2017

S Shorvon

series ordinal

2

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3 September 2017

publication date

15 May 2015

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25982265%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25982265%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

volume

49

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25982265%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

page(s)

104-110

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25982265%20AND%20SRC:MED&resulttype=core&format=json

Mitochondrial disease and epilepsy

8 March 2020

cites work

1 reference

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Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants

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Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

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Basic mechanisms of catastrophic epilepsy -- overview from animal models

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

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Ohtahara syndrome with emphasis on recent genetic discovery.

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Pathogenetic mechanisms of focal cortical dysplasia

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Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain

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Polymerase gamma 1 mutations: clinical correlations

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Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

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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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Epilepsy in inborn errors of metabolism

7 January 2021

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22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature

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7 January 2021

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7 January 2021

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Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

7 January 2021

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7 January 2021

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Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

7 January 2021

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

7 January 2021

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

7 January 2021

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Inborn errors of metabolism causing epilepsy

7 January 2021

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7 January 2021

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Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus

7 January 2021

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10.1016/J.YEBEH.2015.04.013

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25982265%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

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