Results 131 to 140 of about 1,113 (145)
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay [PDF]
Scientific Reports, 2016 AbstractEpilepsy of infancy with migrating focal seizures (EIMFS) is one of the early-onset epileptic syndromes characterized by migrating polymorphous focal seizures. Whole exome sequencing (WES) in ten sporadic and one familial case of EIMFS revealed compound heterozygous SLC12A5 (encoding the neuronal K+-Cl− co-transporter KCC2) mutations in two ...
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A variant in SLC12A5 for a familial benign Rolandic epilepsy
Neurology Asia, 2023Benign Rolandic epilepsy (BRE) is the most common cause of epilepsy in childhood. Childhood epilepsies have high heritability, and many BRE cases show an autosomal dominant inheritance pattern. Thanks to the advancement of genomics, the causal genes of BRE were being elucidated.
JONG HUN Kim, Hyoung Seop Kim
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Transcript-Specific Associations of SLC12A5 (KCC2) in Human Prefrontal Cortex with Development, Schizophrenia, and Affective Disorders [PDF]
Journal of Neuroscience, 2012 The neuron-specific K+-Cl−cotransporter SLC12A5, also known as KCC2, helps mediate the electrophysiological effects of GABA. The pattern of KCC2 expression during early brain development suggests that its upregulation drives the postsynaptic switch of GABA from excitation to inhibition.
Ran Tao
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Purification of SLC12A5 from Expi293FTM Cells
2022This protocol is used to purify the SLC transporter expressed in Expi293FTM Cells using detergent solubilization followed by a series of different chromatographic methods. Depending on the nature of the expression construct and experimental requirements, the GFP tag can be removed using a proteolytic reaction.
David B. Sauer +5 more
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Archives of Medical Research, 2022
Cervical cancer (CC) is a common female malignant tumor. With the trend of younger onset, people pay more and more attention to it. Numberless evidence has been indicated that long non-coding RNAs (lncRNAs) can take part in progression of cancers and can exert the regulatory roles in assorted cancers. Nevertheless, the roles of FEZ family zinc finger 1-
Xiaowei, Yang, Yuejie, Qu, Jixian, Zhang
exaly +3 more sources
Cervical cancer (CC) is a common female malignant tumor. With the trend of younger onset, people pay more and more attention to it. Numberless evidence has been indicated that long non-coding RNAs (lncRNAs) can take part in progression of cancers and can exert the regulatory roles in assorted cancers. Nevertheless, the roles of FEZ family zinc finger 1-
Xiaowei, Yang, Yuejie, Qu, Jixian, Zhang
exaly +3 more sources
Molecular Medicine ReportsSolute carrier family 12 member 5 (SLC12A5) is an oncogene in numerous types of cancer, however its function in breast cancer (BC) remains elusive. ETS translocation variant 4 (ETV4) promotes BC. Therefore, the present study aimed to elucidate the role of SLC12A5 in ferroptosis and glucose metabolism in BC cells as well as to understand the underlying ...
Wang, Huan, Dai, Yanyan, Wang, Fengxiang
exaly +3 more sources
Cytogenetic and Genome Research, 2001
K<sup>+</sup>-Cl<sup>–</sup> cotransporters (KCCs) constitute a branch of the cation-chloride cotransporter (CCC) family. To date, four KCC isoforms (KCC1-KCC4) have been identified and they all mediate obligatorily coupled, electroneutral transmembrane movement of K<sup>+</sup> and Cl<sup>–</sup> ions ...
R. Sallinen +5 more
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K<sup>+</sup>-Cl<sup>–</sup> cotransporters (KCCs) constitute a branch of the cation-chloride cotransporter (CCC) family. To date, four KCC isoforms (KCC1-KCC4) have been identified and they all mediate obligatorily coupled, electroneutral transmembrane movement of K<sup>+</sup> and Cl<sup>–</sup> ions ...
R. Sallinen +5 more
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Clinical Genetics, 2017
Epilepsy of infancy with migrating focal seizures (EIMFS) is an infantile epileptic encephalopathy characterized by refractory seizures, severe psychomotor delay, and multiple moving epileptic discharges. The genetic etiology of EIMFS is relatively homogeneous with the majority of causative mutations found in KCNT1. Currently, gene panel or whole‐exome
T. Saito +4 more
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Epilepsy of infancy with migrating focal seizures (EIMFS) is an infantile epileptic encephalopathy characterized by refractory seizures, severe psychomotor delay, and multiple moving epileptic discharges. The genetic etiology of EIMFS is relatively homogeneous with the majority of causative mutations found in KCNT1. Currently, gene panel or whole‐exome
T. Saito +4 more
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Novel Homozygous Full Gene Deletion of
ABSTRACT SLC12A5 codes for a protein that mediates electroneutral potassium–chloride cotransport in mature neurons and is required to maintain chloride homeostasis in neurons. Pathogenic missense or truncating variants in SLC12A5 are associated with seizures and severe developmental impairment. Here, we describe a novel homozygous deletion (at least 50.
Lauren M. Wainman +5 more
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679 Identification and Characterization of a Novel Amplification Gene Slc12a5 in Colorectal Cancer
Gastroenterology, 2013Lixia Xu +6 more
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