A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. (Q48474436)

11 February 2018

title

A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. (English)

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11 February 2018

childhood absence epilepsy

main subject

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4

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11 February 2018

author name string

Lydia Urak

1

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11 February 2018

Martha Feucht

2

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11 February 2018

Nahid Fathi

3

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11 February 2018

Karoline Fuchs

5

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11 February 2018

publication date

11 July 2006

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11 February 2018

published in

Human Molecular Genetics

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11 February 2018

volume

15

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11 February 2018

issue

16

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11 February 2018

page(s)

2533-2541

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11 February 2018

Clinical and genetic aspects of idiopathic epilepsies in childhood

cites work

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Genetic abnormalities underlying familial epilepsy syndromes.

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Channelopathies as a genetic cause of epilepsy

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GABA and epileptogenesis

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Subunit composition, distribution and function of GABA(A) receptor subtypes

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First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

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Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

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Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

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A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions

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Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

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GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

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Ontogeny of GABAA receptor subunit mRNAs in rat spinal cord and dorsal root ganglia.

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Developmental changes in human gamma-aminobutyric acidA receptor subunit composition.

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Structure and organization of GABRB3 and GABRA5.

21 January 2018

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N-Oct 5 is generated by in vitro proteolysis of the neural POU-domain protein N-Oct 3

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cDNA cloning of human N-Oct3, a nervous-system specific POU domain transcription factor binding to the octamer DNA motif

21 January 2018

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Identification of the 'NORE' (N-Oct-3 responsive element), a novel structural motif and composite element

21 January 2018

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A CNS-specific POU transcription factor, Brn-2, is required for establishing mammalian neural cell lineages

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Long-term prognosis in two forms of childhood epilepsy: typical absence seizures and epilepsy with rolandic (centrotemporal) EEG foci.

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Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior

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Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy

21 January 2018

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Association between genetic variation of CACNA1H and childhood absence epilepsy

21 January 2018

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Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel

21 January 2018

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Evaluation of CACNA1H in European patients with childhood absence epilepsy

21 January 2018

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Endogenous [3H]flunitrazepam binding in human embryonic kidney cell line 293.

21 January 2018

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Tests for linkage and association in nuclear families

21 January 2018

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Possible association between childhood absence epilepsy and the gene encoding GABRB3

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDL174

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11 February 2018

PubMed ID

16835263

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11 February 2018