Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay
about
KCC2 downregulation facilitates epileptic seizures.GABAergic Transmission during Brain Development: Multiple Effects at Multiple Stages.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 de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures.Locally Reducing KCC2 Activity in the Hippocampus is Sufficient to Induce Temporal Lobe Epilepsy.Differential regulation of chloride homeostasis and GABAergic transmission in the thalamus
P2860
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P2860
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay
description
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 20 July 2016
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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
Impaired neuronal KCC2 functio ...... and severe developmental delay
@en
Impaired neuronal KCC2 functio ...... nd severe developmental delay.
@nl
type
label
Impaired neuronal KCC2 functio ...... and severe developmental delay
@en
Impaired neuronal KCC2 functio ...... nd severe developmental delay.
@nl
prefLabel
Impaired neuronal KCC2 functio ...... and severe developmental delay
@en
Impaired neuronal KCC2 functio ...... nd severe developmental delay.
@nl
P2093
P2860
P50
P356
P1433
P1476
Impaired neuronal KCC2 functio ...... and severe developmental delay
@en
P2093
Chihiro Ohba
Hideaki Shiraishi
Hiroshi Matsumoto
Kenji Sugai
Khoo Teik Beng
Miho Watanabe
Mitsuko Nakashima
Naomichi Matsumoto
Noriko Miyake
Satoko Miyatake
P2860
P2888
P356
10.1038/SREP30072
P407
P577
2016-07-20T00:00:00Z