Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
about
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.Detrimental effect of post Status Epilepticus treatment with ROCK inhibitor Y-27632 in a pilocarpine model of temporal lobe epilepsy.A noninvasive optical approach for assessing chloride extrusion activity of the K-Cl cotransporter KCC2 in neuronal cells.Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delayA patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1.Compromising KCC2 transporter activity enhances the development of continuous seizure activity.Locus Heterogeneity in Epilepsy of Infancy with Migrating Focal Seizures.KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.Molecular cloning and biochemical characterization of two cation chloride cotransporter subfamily members of Hydra vulgaris.Physiological role of SLC12 family members in the kidney.GABAergic Transmission during Brain Development: Multiple Effects at Multiple Stages.A Novel View on the Role of Intracellular Tails in Surface Delivery of the Potassium-Chloride Cotransporter KCC2Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.Native KCC2 interactome reveals PACSIN1 as a critical regulator of synaptic inhibitionK+-Cl- co-transporter 2 (KCC2) - a membrane trafficking perspective.N-Ethylmaleimide increases KCC2 cotransporter activity by modulating transporter phosphorylation.A distinct microRNA expression profile is associated with α[11C]-methyl-L-tryptophan (AMT) PET uptake in epileptogenic cortical tubers resected from patients with tuberous sclerosis complex.A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures.Pro-Brain-Derived Neurotrophic Factor (proBDNF)-Mediated p75NTR Activation Promotes Depolarizing Actions of GABA and Increases Susceptibility to Epileptic Seizures.Dynamic changes of depolarizing GABA in a computational model of epileptogenic brain: Insight for Dravet syndrome.The KCC2 Cotransporter and Human Epilepsy: Getting Excited About Inhibition.Sleep dysfunction following neonatal ischemic seizures are differential by neonatal age of insult as determined by qEEG in a mouse model.Locally Reducing KCC2 Activity in the Hippocampus is Sufficient to Induce Temporal Lobe Epilepsy.Dose-dependent reversal of KCC2 hypofunction and phenobarbital-resistant neonatal seizures by ANA12
P2860
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P2860
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
description
2015 nî lūn-bûn
@nan
2015 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures
@nl
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
@ast
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
@en
type
label
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures
@nl
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
@ast
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
@en
prefLabel
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures
@nl
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
@ast
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
@en
P2093
P2860
P50
P3181
P356
P1476
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
@en
P2093
Anna Wedell
Annapurna Poduri
Atsuo Kawahara
Bengt Persson
Deborah Hughes
Esther Meyer
Grace Vassallo
Henrik Stranneheim
Hiromi Hirata
Holly Smith
P2860
P2888
P3181
P356
10.1038/NCOMMS9038
P407
P50
P577
2015-09-03T00:00:00Z
P6179
1019197527