WATER BATH 5 LITRES 100
- Known as:
- WATER BATH 5 LITRES 100
- Catalog number:
- TBN-06/100
- Category:
- -
- Supplier:
- SBS
- Gene target:
- WATER BATH 5 LITRES 100
Related genes to: WATER BATH 5 LITRES 100
- Gene:
- SLC6A1 NIH gene
- Name:
- solute carrier family 6 member 1
- Previous symbol:
- -
- Synonyms:
- GAT1, GABATR, GABATHG
- Chromosome:
- 3p25.3
- Locus Type:
- gene with protein product
- Date approved:
- 1994-02-16
- Date modifiied:
- 2016-02-17
Related products to: WATER BATH 5 LITRES 100
#10 Rubber Bands, 1Lb Box Pale Crepe Gold#10 Rubber Bands, 1Lb Box Pale Crepe Gold#10 Rubber Bands, 1Lb Box Pale Crepe Gold(-)-Epigallocatechin gallate(-)-Epigallocatechin gallate (EGCG)(-)-JQ1(-)-Scopolamine Perchlorate (Hyoscine perchlorate)(d,l)-Tetrahydroberberine (Canadine)(d,l)_Tetrahydroberberine (Canadine)(R,S)-2,2-Dimethyl-1,3-dioxolane-4-methanol C6H12O3 CAS: 100-79-8(R,S)-2,2-Dimethyl-1,3-dioxolane-4-methanol CAS: 100-79-8 Formula: C6H12O3(R,S)-Lenalidomide(R,S)-Lenalidomide Related articles to: WATER BATH 5 LITRES 100
- The SLC6A1 gene encodes the gamma-aminobutyric acid transporter 1 protein, which facilitates the reuptake of gamma-aminobutyric acid from the synaptic cleft in inhibitory synapses back into presynaptic neurons and glial cells. SLC6A1 haploinsufficiency leads to neurodevelopmental impairment including epilepsy, movement disorders, intellectual disability, and autism spectrum disorder. SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is a rare condition with autosomal dominant inheritance for which there is no cure. Acting as a chemical chaperone, glycerol phenylbutyrate, used for urea cycle disorders, can cross the blood-brain barrier and increase GABA transporter 1 surface cell expression in animal and in vitro models. This research aimed to review the clinical characteristics of a cohort of pediatric patients with SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) in Spain and to assess the efficacy and safety of glycerol phenylbutyrate treatment. - Source: PubMed
Publication date: 2026/08/27
Díaz-Gómez AsunciónBallesteros-Cogollos VirgíniaCalvo-Medina RocíoAznar-Laín GemmaBeltrán-Corbellini AlvaroTuron-Viñas EulàliaCampo-Barasoain AndreaLamagrande-Casanova NuriaCuevas-Cervera José LuisBermejo-González TeresaLosada-Del Pozo RebecaPons-Rodríguez MontserratMálaga-Diéguez IgnacioMartí-Carrera Itxaso - Epilepsy with myoclonic-atonic seizures (EMAtS), historically termed Doose syndrome, is a developmental and epileptic encephalopathy characterized by the usually abrupt onset of multiple generalized seizure types, including myoclonic-atonic seizures, in early childhood. Advances in genetic diagnostics, antiseizure treatments, and precision therapies have reshaped understanding and management of EMAtS. - Source: PubMed
Publication date: 2026/09/19
Samanta Debopam - SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is characterized by intellectual disability, epilepsy, and behavioral difficulties. It is caused by pathogenic variants in SLC6A1, encoding the GABA transporter protein 1 (GAT1). Glycerol phenylbutyrate increases GAT1 expression in preclinical models and has shown promising effects on seizure control in a clinical study. - Source: PubMed
Publication date: 2026/09/02
van Walree E SDekker D ZSprengers J JBoussaad Ivan Muilekom M MSmits M JAlders M Avan Haelst M MAltinbas AGunning W BHaaxma C Avan der Vegt J P MVerhoeven J SGrinspan Z MSchieving J HMüller A Rvan Karnebeek C D - -related neurodevelopmental disorder is a synaptopathy characterized by developmental delay, epilepsy, and neurobehavioral manifestations with marked phenotypic variability. Variants impair γ-aminobutyric acid (GABA) transporter-1 (GAT-1) folding and trafficking, reducing inhibitory neurotransmission and promoting hyperexcitability. Pharmacologic chaperones such as 4-phenylbutyrate (4-PBA) may restore GAT-1 function. We report a 3-generation family harboring a heterozygous variant with segregating neurodevelopmental and epileptic phenotypes. The proband presented with drug-resistant developmental and epileptic encephalopathy, multiple seizure types, diffuse epileptiform abnormalities, and global developmental delay. Segregation analysis demonstrated co-segregation of the variant with epilepsy and neurodevelopmental features across affected relatives. Because of persistent seizures despite antiseizure medications, glycerol phenylbutyrate (GPB), a prodrug of 4-PBA, was initiated, resulting in complete seizure freedom and reduction of epileptiform discharges on follow-up electroencephalography. These findings highlight the potential role of genotype-informed precision therapy in -related disorders and underscore the importance of careful variant interpretation in familial cases. - Source: PubMed
Publication date: 2026/09/12
Ghawi Odette ElBeemarajan EniyaSamanta DebopamRamani Praveen Kumar - Pathogenic variants in SLC6A1, which encodes the γ-aminobutyric acid (GABA) transporter GAT-1, cause developmental and epileptic encephalopathies (DEEs) through reduced GABA uptake, impaired transporter trafficking, and functional haploinsufficiency. 4-phenylbutyrate (PBA) is a clinically available small molecule with chemical-chaperone and histone-deacetylase-inhibitor activities that can rescue misfolded GABAergic proteins, but variant-level rescue data are needed to guide precision treatment. - Source: PubMed
Publication date: 2026/08/21
Delahanty Aiden JamesJames KaitlinCarter Emma GraceSong Ziang DebbieWang JuexinBassette MelissaKang Jing-Qiong