Genome search for susceptibility loci of common idiopathic generalised epilepsies - Wikidata - wikimedia - TriplyDB

Genome search for susceptibility loci of common idiopathic generalised epilepsies

Genome search for susceptibility loci of common idiopathic generalised epilepsies

http://www.wikidata.org/entity/Q28140374

about

Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold Linkage and association analysis of CACNG3 in childhood absence epilepsy Bicarbonate homeostasis in excitable tissues: role of AE3 Cl-/HCO3- exchanger and carbonic anhydrase XIV interaction Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models Ion channels and epilepsy Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption Childhood absence epilepsy: genes, channels, neurons and networks.Research and progress on ClC‑2 (Review).Variants of the KCNMB3 regulatory subunit of maxi BK channels affect channel inactivation.Identification of epilepsy genes in human and mouse 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.Characterization of an epilepsy-associated variant of the human Cl-/HCO3(-) exchanger AE3.Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.Incidence of epilepsy: a systematic review and meta-analysis.Genetics of photosensitivity (photoparoxysmal response): a review.Genetic mechanisms that underlie epilepsy.Molecular basis of Mendelian idiopathic epilepsies.Epilepsy in Irish Wolfhounds.Genetic association studies in epilepsy: "the truth is out there".The state of the art in the genetic analysis of the epilepsies Advances in epilepsy genetics and genomics.Susceptibility genes for complex epilepsy.Genetics of idiopathic generalized epilepsies.Voltage-gated calcium channels and idiopathic generalized epilepsies.Shared loci for migraine and epilepsy on chromosomes 14q12-q23 and 12q24.2-q24.3.A polygenic heterogeneity model for common epilepsies with complex genetics.Genetic complexity of absence seizures in substrains of C3H mice.Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy.Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14.Chloride channelopathies of ClC-2.Targeting BK (big potassium) channels in epilepsy.Genetics of epilepsy and relevance to current practice.The molecular biology of genetic-based epilepsies.The relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy.Altered visual contrast gain control is sensitive for idiopathic generalized epilepsies.Familial infantile myoclonic epilepsy: clinical features in a large kindred with autosomal recessive inheritance.

P2860

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P2860

Genome search for susceptibility loci of common idiopathic generalised epilepsies

http://www.wikidata.org/entity/Q28140374

description

2000 nî lūn-bûn

@nan

2000 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2000年の論文

@ja

2000年論文

@yue

2000年論文

@zh-hant

2000年論文

@zh-hk

2000年論文

@zh-mo

2000年論文

@zh-tw

2000年论文

@wuu

name

Genome search for susceptibility loci of common idiopathic generalised epilepsies

@ast

Genome search for susceptibility loci of common idiopathic generalised epilepsies

@en

Genome search for susceptibility loci of common idiopathic generalised epilepsies

@nl

type

label

Genome search for susceptibility loci of common idiopathic generalised epilepsies

@ast

Genome search for susceptibility loci of common idiopathic generalised epilepsies

@en

Genome search for susceptibility loci of common idiopathic generalised epilepsies

@nl

prefLabel

Genome search for susceptibility loci of common idiopathic generalised epilepsies

@ast

Genome search for susceptibility loci of common idiopathic generalised epilepsies

@en

Genome search for susceptibility loci of common idiopathic generalised epilepsies

@nl

P1433

Q28140374-2FA6F855-E79A-40BF-A44A-7BC34F871BCA

P1476

Q28140374-2A79A2EF-F082-4FA4-8592-EBE9FA810069

P2093

Q28140374-0EAE5FD3-588D-4CA0-8E65-2B5550D1DE3C

Q28140374-181341DB-BACA-410F-98EF-EB04BE52B1DE

Q28140374-2A7A3128-A3CA-42A9-864B-FE3FCE29D427

Q28140374-4BF690FF-67EB-4D14-BA97-BE93527B1DE9

Q28140374-503F7E64-7A91-497C-BD14-2E293F08EAAC

Q28140374-5745F5DB-E5A6-412F-A7ED-21E9260EBE3C

Q28140374-582A7109-F858-47A3-BE66-7696F974D43A

Q28140374-5DB7B728-203F-4315-9509-E877DA9FC465

Q28140374-60BD723E-D7E5-4B5C-A63F-4BAEA7D33C3E

Q28140374-65E897E4-AAEA-4408-B480-E5B7A57CCAD6

P304

Q28140374-900143D6-1EAA-4318-B19E-FD371DD85E06

P31

Q28140374-0364EFDD-168E-467C-8366-D9EC08EF07A2

P356

Q28140374-3FD4985C-0F07-42B9-BB69-36C453223634

P407

Q28140374-31A5575C-AB7A-4761-A91C-139D9B7ECF03

P433

Q28140374-CC50AE77-5A40-4B5C-B23E-3C4C31257BCC

P478

Q28140374-CD0EFA2E-F249-43AF-A3E7-046030E6F83E

P50

Q28140374-2AC650F6-7FB9-4BD7-A8CE-80A7F2E4DAB7

Q28140374-334FAEDA-2406-4B9B-A117-EAA0FE60C7C9

Q28140374-EEF91E96-9B00-46B2-A287-06E9F1073581

P577

Q28140374-1A11C0B6-32E7-44FB-BBA4-347A5972B30E

P5875

Q28140374-E5678DA4-21C0-4E9F-907B-C7FEE9E30631

P698

Q28140374-112F3EE7-CFBE-4443-BFD3-DFB7CAC1DE1D

P921

Q28140374-9AFC1D85-EEFC-42A5-B676-D58FD19C72AA

Q28140374-E90930DD-3D82-450E-9C88-F70ECC60FC71

P356

P1433

Human Molecular Genetics

P1476

Genome search for susceptibility loci of common idiopathic generalised epilepsies

@en

P2093

A Bader

http://www.w3.org/2001/XMLSchema#string

A Bianchi

http://www.w3.org/2001/XMLSchema#string

A Sundquist

http://www.w3.org/2001/XMLSchema#string

C Bulteau

http://www.w3.org/2001/XMLSchema#string

C Cieuta

http://www.w3.org/2001/XMLSchema#string

D G Kasteleijn-Nolst-Trenité

http://www.w3.org/2001/XMLSchema#string

D Janz

http://www.w3.org/2001/XMLSchema#string

D Lindhout

http://www.w3.org/2001/XMLSchema#string

D Luna

http://www.w3.org/2001/XMLSchema#string

D Ville

http://www.w3.org/2001/XMLSchema#string

P304

1465-72

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1093/HMG/9.10.1465

http://www.w3.org/2001/XMLSchema#string

P407

P433

10

http://www.w3.org/2001/XMLSchema#string

P478

9

http://www.w3.org/2001/XMLSchema#string

P50

P577

2000-06-12T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

12429738

http://www.w3.org/2001/XMLSchema#string

P698

10888596

http://www.w3.org/2001/XMLSchema#string

P921

susceptibility locus