ArticleHuman genetics2017
Rare SLC1A1 variants in hot water epilepsy.
Article in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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Who cites it
7 citing papers in PubMed, 18 citations in OpenAlex.
- The associations between epilepsy, metabolism, and their clinical implications.Frontiers in endocrinology · 2026Review
- Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.Genome medicine · 2025Article
- Solute carrier family 1 member 1 in renal interstitial fibrosis: evaluating its influence on glutamate uptake and extracellular ion levels.Frontiers in medicine · 2025Article
- Assessment of expression of calcium signaling related lncRNAs in epilepsy.Scientific reports · 2023Article
- Ion Channel and Ubiquitin Differential Expression during Erythromycin-Induced Anhidrosis in Foals.Animals : an open access journal from MDPI · 2021Article
- Genetic Association of Epilepsy and Anti-Epileptic Drugs Treatment in Jordanian Patients.Pharmacogenomics and personalized medicine · 2020Article
- A genetic locus for sensory epilepsy precipitated by contact with hot water maps to chromosome 9p24.3-p23.Journal of genetics · 2018Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hot water epilepsy is sensory epilepsy, wherein seizures are triggered by an unusual stimulus: contact with hot water. Although genetic factors contribute to the etiology of hot water epilepsy, molecular underpinnings of the disorder remain largely unknown. We aimed to identify the molecular genetic basis of the disorder by studying families with two or more of their members affected with hot water epilepsy. Using a combination of genome-wide linkage mapping and whole exome sequencing, a missense variant was identified in SLC1A1 in a three-generation family. Further, we examined SLC1A1in probands of 98 apparently unrelated HWE families with positive histories of seizures provoked by contact with hot water. In doing so, we found three rare variants, p.Asp174Asn, p.Val251Ile and p.Ile304Met in the gene. SLC1A1 is a neuronal glutamate transporter which limits excitotoxicity and its loss-of-function leads to age-dependent neurodegeneration. We examined functional attributes of the variants in cultured mammalian cells. All three non-synonymous variants affected glutamate uptake, exhibited altered glutamate kinetics and anion conductance properties of SLC1A1. These observations provide insights into the molecular basis of hot water epilepsy and show the role of SLC1A1 variants in this intriguing neurobehavioral disorder.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.