POLYCARBONATE BATH DIGITAL
- Known as:
- POLYCARBONATE BATH DIGITAL
- Catalog number:
- TBE-2
- Category:
- -
- Supplier:
- SBS
- Gene target:
- POLYCARBONATE BATH DIGITAL
Related genes to: POLYCARBONATE BATH DIGITAL
- 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
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- The mechanistic effects of genetic variants underlying genetic neurodevelopmental disorders (NDDs) are widely studied, but the contribution of external factors remains largely unexplored. - Source: PubMed
Publication date: 2026/07/18
Boßelmann Christian MLudwig Natasha NHolingue CalliopeJimenez-Gomez AndresGanna AndreaPerry M ScottArenivas AnaLal Dennis - Preclinical studies and early clinical trials suggest phenylbutyrate (an FDA and European Medicines Agency-approved medication for urea cycle disorders) may improve seizure control in certain developmental and epileptic encephalopathies (DEEs). Its effect on development is unknown, and comorbidities like hypotonia may raise toxicity risks. This study examines early clinical experiences with phenylbutyrate in children with DEEs, outside the context of a clinical trial. - Source: PubMed
Publication date: 2026/06/20
Barbour KristenStӧdberg TommyLarsson AnnaDahlin MariaGrinspan Zachary M - Monogenic epilepsies are 1.6 times more likely to be treatment-resistant compared to other epilepsies, emphasizing the need for additional therapeutic strategies. Sleep dysfunction beyond sleep-related breathing disorders is common yet insufficiently characterized and treated in monogenic epilepsies. We therefore sought to study sleep phenotypes across these epilepsies, examine associations with seizure severity, and assess the diagnostic rate of sleep disorders. From 2,519 individuals enrolled in the Epilepsy Genetics Research Project at Children's Hospital of Philadelphia, we identified the monogenic epilepsies most frequently associated with sleep-related diagnoses, yielding 252 individuals across nine genetic diagnoses ( , 79; , 57; , 34; , 21; , 14; , 13; , 13; , 11; , 10). Monogenic epilepsies exhibited distinct sleep endophenotypes, including insomnia, parasomnia, and sleep-related movement disorders in -related disorders; frequent epileptiform discharges in sleep with insomnia symptoms in -related disorders; sleep dysfunction restricted to the developmental and epileptic encephalopathy subtype in -related disorders; and insomnia without nocturnal seizure involvement in -related disorders. Formal sleep diagnoses were present in only 25% of individuals (63/252), yet 58% (145/252) reported sleep difficulties, suggesting substantial underdiagnosis. Persistent seizures were associated with higher odds of sleep disorder diagnoses ( 2.87, 1.57-5.36), disrupted sleep architecture ( 2.06, 1.08-4.16), nocturnal seizures ( 4.47, 2.50-8.28), hypersomnolence ( 2.38, 1.27-4.58) and insomnia ( 1.80, 1.06-3.05). Neuropsychiatric comorbidities were independently associated with sleep burden after adjustment for seizure severity ( 2.49, 1.40-4.49). We find that monogenic epilepsies exhibit distinct, gene-specific sleep endophenotypes that are underdiagnosed. Treating sleep difficulties beyond obstructive sleep apnoea may improve seizure control and developmental outcomes, highlighting the need for timely diagnosis of co-occurring sleep disorders. - Source: PubMed
Publication date: 2026/06/29
Bochtler Katharina SBatterman Alexander IKoh Hyun YongKessler RileyEsparza ChristineShon JoyKaufman Michael CHelbig IngoCuddapah Vishnu Anand - 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: 2026/06/19
Delahanty Aiden JamesJames KaitlinGrace EmmaSong Ziasng DebbieWang JuexinBassette MelissaKang Jing-Qiong - Developmental and epileptic encephalopathies (DEEs) are severe early-onset disorders featuring refractory seizures, abnormal EEGs, and developmental delays. Clinically and etiologically heterogeneous, they include subtypes such as Dravet syndrome and EIMFS. An increasing number are recognized as etiology-specific, with distinct genetic causes corresponding to characteristic phenotypes, highlighting the need for thorough diagnostic evaluation. This study utilized a multidisciplinary diagnostic approach to investigate DEE. In this descriptive case series, the reported novel variants include a duplication (c.596dup), an insertion (c.3879dup), and an in-frame deletion (c.943_945del). Bioinformatics and segregation analysis supported their pathogenicity, with each variant linked to a distinct clinical phenotype. The reported novel variants broaden the phenotypic and genotypic spectrum of these disorders and inform clinical management and genetic counseling. - Source: PubMed
Publication date: 2026/06/17
Honarmand HaneiehBabaei SinaBonyadi MortazaBarzegar Mohammad