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A cluster of three novel Ca2+ channel gamma subunit genes on chromosome 19q13.4: evolution and expression profile of the gamma subunit gene familyNeuronal Elav-like (Hu) proteins regulate RNA splicing and abundance to control glutamate levels and neuronal excitability.Suppression of PKR promotes network excitability and enhanced cognition by interferon-γ-mediated disinhibitionSudden unexpected death in epilepsy: Identifying risk and preventing mortalityHyper-SUMOylation of the Kv7 potassium channel diminishes the M-current leading to seizures and sudden death.Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.Spreading depolarization in the brainstem mediates sudden cardiorespiratory arrest in mouse SUDEP modelsMice lacking Dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsyArrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death.Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesiclesGenetic mapping and evaluation of candidate genes for spasmodic, a neurological mouse mutation with abnormal startle responseMice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architectureMutant mouse tottering: selective increase of locus ceruleus axons in a defined single-locus mutationbeta subunit reshuffling modifies N- and P/Q-type Ca2+ channel subunit compositions in lethargic mouse brainTo share or not to share: a randomized trial of consent for data sharing in genome researchNOVA-dependent regulation of cryptic NMD exons controls synaptic protein levels after seizure.Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypesAberrant excitatory neuronal activity and compensatory remodeling of inhibitory hippocampal circuits in mouse models of Alzheimer's diseaseGenetic enhancement of thalamocortical network activity by elevating alpha 1g-mediated low-voltage-activated calcium current induces pure absence epilepsy.Kv1.1 potassium channel deficiency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy.Deletion of the potassium channel Kv12.2 causes hippocampal hyperexcitability and epilepsy.Arc regulates spine morphology and maintains network stability in vivo.Delayed postnatal loss of P/Q-type calcium channels recapitulates the absence epilepsy, dyskinesia, and ataxia phenotypes of genomic Cacna1a mutations.Amyloid-β/Fyn-induced synaptic, network, and cognitive impairments depend on tau levels in multiple mouse models of Alzheimer's disease.Neonatal estradiol stimulation prevents epilepsy in Arx model of X-linked infantile spasms syndrome.Reduced cognition in Syngap1 mutants is caused by isolated damage within developing forebrain excitatory neuronsExpression and function of Kv1.1 potassium channels in human atria from patients with atrial fibrillation.Expanded alternative splice isoform profiling of the mouse Cav3.1/alpha1G T-type calcium channel.Voltage-dependent calcium channel mutations in neurological disease."Jasper's Basic Mechanisms of the Epilepsies" WorkshopGenetic testing in the epilepsies--report of the ILAE Genetics CommissionGenetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome 22q13.High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.Models for epilepsy and epileptogenesis: report from the NIH workshop, Bethesda, Maryland.Abbreviated report of the NIH/NINDS workshop on sudden unexpected death in epilepsy.Exploring new gene discoveries in idiopathic generalized epilepsy.MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespanThe biology of epilepsy genes.The Judith Hoyer Lecture: genes, pixels, patterns, and prevention.
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description
onderzoeker
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researcher
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հետազոտող
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Jeffrey L. Noebels
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Jeffrey L. Noebels
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Jeffrey L. Noebels
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Jeffrey L. Noebels
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Jeffrey L. Noebels
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Jeffrey L. Noebels
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Jeffrey L. Noebels
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Jeffrey L. Noebels
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Jeffrey L. Noebels
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Jeffrey L. Noebels
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Jeffrey L. Noebels
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Jeffrey L. Noebels
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P106
P1153
7005173193
P31
P496
0000-0002-2887-0839