Developmental impact of a familial GABAA receptor epilepsy mutation
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Identification of new epilepsy treatments: issues in preclinical methodologyGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsRemoval of GABA(A) receptor γ2 subunits from parvalbumin neurons causes wide-ranging behavioral alterations.Reduced local input to fast-spiking interneurons in the somatosensory cortex in the GABAA γ2 R43Q mouse model of absence epilepsy.Mutations affecting GABAergic signaling in seizures and epilepsy.GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptorsGene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation.Altered GABA signaling in early life epilepsies.Regulatory functions of limbic Y1 receptors in body weight and anxiety uncovered by conditional knockout and maternal careHCN channelopathies: pathophysiology in genetic epilepsy and therapeutic implicationsMutation Screening of the γ-Aminobutyric Acid Type-A Receptor Subunit γ2 Gene in Korean Patients with Childhood Absence Epilepsy.Mutations in GABAA receptor subunits associated with genetic epilepsies.A common susceptibility factor of both autism and epilepsy: functional deficiency of GABA A receptors.The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through.Early Correlated Network Activity in the Hippocampus: Its Putative Role in Shaping Neuronal Circuits.Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.Perturbations in cortical development and neuronal network excitability arising from prenatal exposure to benzodiazepines in mice.Genetic and pharmacological modulation of giant depolarizing potentials in the neonatal hippocampus associates with increased seizure susceptibility.'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour.Epileptogenesis in neonatal brain.
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P2860
Developmental impact of a familial GABAA receptor epilepsy mutation
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on September 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Developmental impact of a familial GABAA receptor epilepsy mutation
@en
Developmental impact of a familial GABAA receptor epilepsy mutation.
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type
label
Developmental impact of a familial GABAA receptor epilepsy mutation
@en
Developmental impact of a familial GABAA receptor epilepsy mutation.
@nl
prefLabel
Developmental impact of a familial GABAA receptor epilepsy mutation
@en
Developmental impact of a familial GABAA receptor epilepsy mutation.
@nl
P2093
P2860
P50
P356
P1433
P1476
Developmental impact of a familial GABAA receptor epilepsy mutation
@en
P2093
Frank N Single
Heneu O Tan
Irene Koukoulas
Mathew V Jones
Philip J Davies
Seong-Seng Tan
Steven Petrou
P2860
P304
P356
10.1002/ANA.21440
P577
2008-09-01T00:00:00Z