Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.
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Potassium Channels and Human Epileptic Phenotypes: An Updated OverviewGenetic neurological channelopathies: molecular genetics and clinical phenotypes.Advancing epilepsy genetics in the genomic eraMolecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channelsGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsPremature changes in neuronal excitability account for hippocampal network impairment and autistic-like behavior in neonatal BTBR T+tf/J mice.M-current preservation contributes to anticonvulsant effects of valproic acid.Potent KCNQ2/3-specific channel activator suppresses in vivo epileptic activity and prevents the development of tinnitusK(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathiesEffects of low frequency electric fields on synaptic integration in hippocampal CA1 pyramidal neurons: implications for power line emissionsThe Role of KV7.3 in Regulating Osteoblast Maturation and MineralizationImproving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.Epilepsy: old syndromes, new genes.KCNA2-Related Epileptic Encephalopathy.Precision physiology and rescue of brain ion channel disorders.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Calmodulin regulates KCNQ2 function in epilepsy.Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.Early and effective treatment of KCNQ2 encephalopathy.The anticonvulsant retigabine suppresses neuronal KV2-mediated currents.Event-Associated Oxygen Consumption Rate Increases ca. Five-Fold When Interictal Activity Transforms into Seizure-Like Events In Vitro.A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate.The variable phenotypes of KCNQ-related epilepsy.Abnormal γ-aminobutyric acid neurotransmission in a Kcnq2 model of early onset epilepsy.Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.A possible link between KCNQ2- and STXBP1-related encephalopathies: STXBP1 reduces the inhibitory impact of syntaxin-1A on M current.Sequence determinants of subtype-specific actions of KCNQ channel openers.Neural stem cells and epilepsy: functional roles and disease-in-a-dish models.Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.Recent Advances in Neonatal Seizures.Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.KCNQ2-Associated Neonatal Epilepsy: Phenotype Might Correlate With Genotype.Variable clinical expression in patients with mosaicism for KCNQ2 mutations.Two Novel KCNQ2 Mutations in 2 Families With Benign Familial Neonatal Convulsions.
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P2860
Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Genotype-phenotype correlation ...... .2 potassium channel subunits.
@ast
Genotype-phenotype correlation ...... .2 potassium channel subunits.
@en
type
label
Genotype-phenotype correlation ...... .2 potassium channel subunits.
@ast
Genotype-phenotype correlation ...... .2 potassium channel subunits.
@en
prefLabel
Genotype-phenotype correlation ...... .2 potassium channel subunits.
@ast
Genotype-phenotype correlation ...... .2 potassium channel subunits.
@en
P2093
P2860
P50
P356
P1476
Genotype-phenotype correlation ...... .2 potassium channel subunits.
@en
P2093
Maria Roberta Cilio
Maurizio Taglialatela
Vincenzo Barrese
P2860
P304
P356
10.1073/PNAS.1216867110
P407
P577
2013-02-25T00:00:00Z