Epilepsies with single gene inheritance. (Q41385397)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071484 AND SRC:MED&resulttype=core&format=json

1 November 2019

review article

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title

Epilepsies with single gene inheritance (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071484 AND SRC:MED&resulttype=core&format=json

1 November 2019

1

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1 November 2019

author name string

I E Scheffer

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071484 AND SRC:MED&resulttype=core&format=json

1 November 2019

language of work or name

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1 January 1997

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071484 AND SRC:MED&resulttype=core&format=json

1 November 2019

published in

Brain and Development

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1 November 2019

volume

19

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1 November 2019

issue

1

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1 November 2019

page(s)

13-18

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071484 AND SRC:MED&resulttype=core&format=json

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1 November 2019

cites work

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7 January 2021

Refined localization of TSC1 by combined analysis of 9q34 and 16p13 data in 14 tuberous sclerosis families

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7 January 2021

A locus for cerebral cavernous malformations maps to chromosome 7q in two families

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7 January 2021

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

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7 January 2021

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Causal heterogeneity in isolated lissencephaly

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

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

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Fragile X genotype characterized by an unstable region of DNA.

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7 January 2021

Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.

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7 January 2021

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6

1 reference

https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

The phenotypic spectrum related to the human epilepsy susceptibility gene “EJM1”

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

1 reference

https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Searching for human epilepsy genes: a progress report.

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Seizure characteristics in chromosome 20 benign familial neonatal convulsions

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Benign infantile epilepsy with complex partial seizures.

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Benign infantile familial convulsions

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Benign familial infantile epilepsy

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene

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7 January 2021

EVIDENCE FOR A GENETIC ETIOLOGY OF TEMPORAL-CENTRAL ABNORMALITIES IN FOCAL EPILEPSY.

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Benign epilepsy of childhood with centrotemporal EEG foci: a genetic study

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Benign partial epilepsy and related conditions: multifactorial pathogenesis with hereditary impairment of brain maturation

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Benign occipital epilepsy: a family study

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7 January 2021

Reading epilepsy. An appraisal of 20 patients diagnosed at the Mayo Clinic, Rochester, Minnesota, between 1949 and 1989, and delineation of the epileptic syndrome

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder

1 reference

https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Genetic linkage studies in familial frontal epilepsy: Exclusion of the human chromosome regions homologous to the El-1 mouse locus

1 reference

https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2

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https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

1 reference

https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Autosomal dominant rolandic epilepsy and speech dyspraxia: A new syndrome with anticipation

1 reference

https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Familial temporal lobe epilepsy: a common disorder identified in twins

1 reference

https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Localization of a gene for partial epilepsy to chromosome 10q

1 reference

https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.

1 reference

https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

Isolation of a novel gene underlying batten disease, CLN3

1 reference

https://api.crossref.org/works/10.1016/S0387-7604(96)50060-5

7 January 2021

10.1016/S0387-7604(96)00060-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9071484 AND SRC:MED&resulttype=core&format=json

1 November 2019

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