Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.
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The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic PotentialCaV3.2 calcium channels control NMDA receptor-mediated transmission: a new mechanism for absence epilepsy.Adult Deletion of SRF Increases Epileptogenesis and Decreases Activity-Induced Gene Expression.Neuronal T-type calcium channels: what's new? Iftinca: T-type channel regulationRole of voltage-gated calcium channels in epilepsy.Ins and outs of T-channel structure function.Genetic enhancement of thalamocortical network activity by elevating alpha 1g-mediated low-voltage-activated calcium current induces pure absence epilepsy.Cav3.2 T-type calcium channel is required for the NFAT-dependent Sox9 expression in tracheal cartilageCharacterization of novel cannabinoid based T-type calcium channel blockers with analgesic effects.1,4-Dihydropyridine derivatives with T-type calcium channel blocking activity attenuate inflammatory and neuropathic pain.Genetic testing in the epilepsies--report of the ILAE Genetics CommissionA focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.Genetics of epilepsy: The testimony of twins in the molecular eraCommon DNA methylation alterations in multiple brain regions in autism.Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlationGenetically complex epilepsies, copy number variants and syndrome constellations.Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsyWhole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.Overexpression of a novel osteopetrosis-related gene CCDC154 suppresses cell proliferation by inducing G2/M arrest.Epilepsy with auditory features: A heterogeneous clinico-molecular disease.Genetic variations and associated pathophysiology in the management of epilepsy.Forty years from markers to genes.Genetics of complex neurological disease: challenges and opportunities for modeling epilepsy in mice and rats.Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.Axon initial segment dysfunction in epilepsy.Trafficking and stability of voltage-gated calcium channels.The design and discovery of T-type calcium channel inhibitors for the treatment of central nervous system disorders.Low threshold T-type calcium channels as targets for novel epilepsy treatments.The molecular biology of genetic-based epilepsies.The relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy.The role of T-type calcium channel genes in absence seizures.Possible role of trace elements in epilepsy and febrile seizures: a meta-analysis.Targeting voltage-gated calcium channels in neurological and psychiatric diseases.The Role of Calcium Channels in Epilepsy.CACNA1H missense mutations associated with amyotrophic lateral sclerosis alter Cav3.2 T-type calcium channel activity and reticular thalamic neuron firing.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Synthesis and characterization of a disubstituted piperazine derivative with T-type channel blocking action and analgesic properties.Block of T-type calcium channels by protoxins I and II.
P2860
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P2860
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.
description
2007 nî lūn-bûn
@nan
2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Extended spectrum of idiopathi ...... h CACNA1H functional variants.
@ast
Extended spectrum of idiopathi ...... h CACNA1H functional variants.
@en
Extended spectrum of idiopathi ...... h CACNA1H functional variants.
@nl
type
label
Extended spectrum of idiopathi ...... h CACNA1H functional variants.
@ast
Extended spectrum of idiopathi ...... h CACNA1H functional variants.
@en
Extended spectrum of idiopathi ...... h CACNA1H functional variants.
@nl
prefLabel
Extended spectrum of idiopathi ...... h CACNA1H functional variants.
@ast
Extended spectrum of idiopathi ...... h CACNA1H functional variants.
@en
Extended spectrum of idiopathi ...... h CACNA1H functional variants.
@nl
P2093
P50
P356
P1433
P1476
Extended spectrum of idiopathi ...... h CACNA1H functional variants.
@en
P2093
Diego Varela
Houman Khosravani
John C Mulley
Michelle R Newman
Tristiana C Williams
P304
P356
10.1002/ANA.21169
P577
2007-12-01T00:00:00Z