About: Linkage and mutational analysis of CLCN2 in childhood absence epilepsy

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rdf:type	Item
description	article (en) հոդված (hy) wetenschappelijk artikel (nl) наукова стаття, опублікована в липні 2007 (uk) im Juni 2007 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q57934540-472367DB-9627-46C1-ACEB-CDF1FD187439
publication date	2007-06-18 00:00:00Z (xsd:dateTime)
cites work	wds:Q57934540-49108273-FF63-44EC-8E86-6D6FB7992D2A
cites work	Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies
author name string	wds:Q57934540-164E6999-2D04-4F37-A5C0-1D50E14D98BE wds:Q57934540-16B88A76-001E-4DDE-AC72-312C645DC48F wds:Q57934540-1800F6CF-3466-418C-A85F-DC8F6AD686C5 wds:Q57934540-1C21256D-27F9-4B4E-94FF-F851CBF9997A wds:Q57934540-4182581E-8909-40E6-BC09-B342E9D14987 wds:Q57934540-5EE19E0B-47D3-4A1C-82D2-D4E87DC1EA72 wds:Q57934540-7552A040-8918-40DA-82B5-ACEC292A3FFA wds:Q57934540-83E12680-C109-42C1-BA87-B8D993585779 wds:Q57934540-8BBED66F-2807-43D0-AA59-8376678825EF wds:Q57934540-97B66BCF-EC29-495C-AA65-E4B9163DBD16 wds:Q57934540-9E80BA2E-A1A4-47C1-BCE8-E90956257B4A wds:Q57934540-AC1A6365-A918-4A69-BF51-FE4B024CFD13 wds:Q57934540-ACD135E5-C634-4397-A53A-5B417C135F8E wds:Q57934540-B2C50466-6642-4D81-BA1B-0FF4407B8631 wds:Q57934540-C0749AD0-F163-42EF-A5EA-DDBAF684A167 wds:Q57934540-D2916840-75E5-4447-BA64-8AE46453930E wds:Q57934540-D781E017-A39F-420E-B4D0-7704B292F334 wds:Q57934540-EDF7142A-340E-4B20-97D5-728E6B590C84 wds:Q57934540-F8348BB1-700A-4EB3-A9D1-130CFD2361F4
author name string	Thomas Sander Armin Heils Athanasios Covanis Jean Aicardi Marianne Kjeldsen Mark Gardiner Mogens Friis Nichole Taske Oebele Brouwer Olivier Dulac Orvar Eeg-Olofsson Paul McKeigue Rima Nabbout Robert Robinson Joseph Dooley Martha Feucht Elaine Wirrell Martina Durner Kate Everett
rdfs:label	Linkage and mutational analysis of CLCN2 in childhood absence epilepsy (en) Linkage and mutational analysis of CLCN2 in childhood absence epilepsy (nl)
skos:prefLabel	Linkage and mutational analysis of CLCN2 in childhood absence epilepsy (en) Linkage and mutational analysis of CLCN2 in childhood absence epilepsy (nl)
name	Linkage and mutational analysis of CLCN2 in childhood absence epilepsy (en) Linkage and mutational analysis of CLCN2 in childhood absence epilepsy (nl)
author	wds:Q57934540-1615E98D-2F44-4712-A3FF-ECEEEB5619CF wds:Q57934540-317D46A0-D48F-4028-BAA2-85C509B12897 wds:Q57934540-4D07A8CB-D78A-478C-9F1B-D47836F148C7 wds:Q57934540-FDC5E773-C63D-4345-8A35-2503B06C8F4F
author	Harald Aschauer Renzo Guerrini Barry A Chioza Petra M.C. Callenbach
title	wds:Q57934540-A690A73A-DFBA-44D3-8917-FCAED47CD6A9
title	Linkage and mutational analysis of CLCN2 in childhood absence epilepsy (en)
page(s)	wds:Q57934540-8EB5B9D7-C7F9-4A88-8C4A-605F88BAED05
page(s)	145-153
instance of	wds:Q57934540-077F3CE2-6069-4644-BA61-150CB6A808DE
instance of	scholarly article
main subject	wds:Q57934540-59B57CA3-000D-4A8D-AC5A-8C49326E13B7 wds:Q57934540-85247FA1-1F89-40E4-9D4F-718D2CC14D0B
main subject	childhood absence epilepsy mutational analysis
PubMed ID	wds:Q57934540-63154664-3E59-4EFD-98F1-2F73FDE9610B
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/17580110
PubMed ID	17580110
published in	wds:Q57934540-9DB1EE44-FBC8-4A8F-BFDD-BCB138ABA17F
published in	Epilepsy Research
issue	wds:Q57934540-DAC1B447-000D-4FBE-835B-2E39DFD34C4A
volume	wds:Q57934540-8E89BF6C-9F09-4B30-BAE2-0727C69BC3B8
issue	2-3
volume	75
DOI	wds:Q57934540-3231432C-C8B1-4932-A497-771688CFFBE8
DOI	http://dx.doi.org/10.1016/J.EPLEPSYRES.2007.05.004
DOI	10.1016/J.EPLEPSYRES.2007.05.004
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57934540
is cites work of	Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology Absence seizures: a review of recent reports with new concepts GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating Sexually dimorphic expression of KCC2 and GABA function Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study ClC-2 voltage-gated channels constitute part of the background conductance and assist chloride extrusion. Clcn2 encodes the hyperpolarization-activated chloride channel in the ducts of mouse salivary glands Genetic testing in the epilepsies--report of the ILAE Genetics Commission Distinct gene expression profiles directed by the isoforms of the transcription factor neuron-restrictive silencer factor in human SK-N-AS neuroblastoma cells Neurochemical and behavioral features in genetic absence epilepsy and in acutely induced absence seizures Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Chloride channelopathies of ClC-2.

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