Partial epilepsy with pericentral spikes: a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15. (Q30703243)

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10 November 2019

title

Partial epilepsy with pericentral spikes: a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15 (English)

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partial epilepsy with pericentral spikes

10 November 2019

main subject

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8

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10 November 2019

Nicholas W. Wood

10

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10 November 2019

Ley Sander

11

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10 November 2019

author name string

Lucy Kinton

1

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10 November 2019

Michael R Johnson

2

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10 November 2019

Shelagh J M Smith

3

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10 November 2019

Fiona Farrell

4

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10 November 2019

John Stevens

5

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10 November 2019

James B Rance

6

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10 November 2019

Angelica M Claudino

7

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10 November 2019

Mary B Davis

9

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10 November 2019

publication date

1 June 2002

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10 November 2019

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10 November 2019

volume

51

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10 November 2019

issue

6

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10 November 2019

page(s)

740-749

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

10 November 2019

cites work

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The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

21 January 2018

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A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

21 January 2018

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A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

21 January 2018

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Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

21 January 2018

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A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

21 January 2018

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Localization of a gene for partial epilepsy to chromosome 10q

21 January 2018

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Autosomal dominant partial epilepsy with auditory features: description of a new family.

21 January 2018

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Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.

21 January 2018

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Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12.

21 January 2018

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Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24

21 January 2018

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Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

21 January 2018

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21 January 2018

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The 1993-94 Généthon human genetic linkage map

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Avoiding recomputation in linkage analysis.

21 January 2018

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Faster linkage analysis computations for pedigrees with loops or unused alleles.

21 January 2018

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A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2.

21 January 2018

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Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

21 January 2018

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Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

21 January 2018

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A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

21 January 2018

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

21 January 2018

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A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1.

21 January 2018

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Benign epilepsy of childhood with centrotemporal spikes

21 January 2018

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Prognosis of Benign Childhood Epilepsy with Centrotemporal Spikes: A Foliow-Up Study of 168 Patients

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Benign rolandic epilepsy: atypical features are very common.

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Benign focal epilepsies of childhood: genetically determined pathophysiology. Report of an international workshop.

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Autosomal dominant partial epilepsy with auditory features: defining the phenotype

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Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.

21 January 2018

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Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

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Cloning, characterization and developmental regulation of two members of a novel human gene family of neurite outgrowth-promoting proteins

21 January 2018

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Cloning and chromosomal localization of two novel human genes encoding LIM-domain binding factors CLIM1 and CLIM2/LDB1/NLI

21 January 2018

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Nuclear LIM interactor, a rhombotin and LIM homeodomain interacting protein, is expressed early in neuronal development

21 January 2018

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The role of dopamine in epilepsy

21 January 2018

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Expression of placental leucine aminopeptidase/oxytocinase in neuronal cells and its action on neuronal peptides

21 January 2018

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Cloning and expression of human carboxypeptidase Z, a novel metallocarboxypeptidase

21 January 2018

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

21 January 2018

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Supporting evidence of a gene for partial epilepsy on 10q

21 January 2018

1 reference

Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2

21 January 2018

1 reference

Benign rolandic epilepsy: high central and low central subgroups

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.10221

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12112080%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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