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Year Number of Results
1990 1
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567 results

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Page 1
Delta Power in SLC6A1-Related Neurodevelopmental Disorder: Operationalizing Quantitative EEG Metrics for Biomarker Development.
Dahshi H, Varnet M, Goodspeed K, Tiller J, Armstrong D, Sirsi D. Dahshi H, et al. Neurol Int. 2026 Mar 18;18(3):58. doi: 10.3390/neurolint18030058. Neurol Int. 2026. PMID: 41893060 Free PMC article.
INTRODUCTION: SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is an epileptic encephalopathy linked to mutations in the SLC6A1 gene and is characterized by early-onset seizures and developmental delays. Despite the growing recognition of SLC6A1 …
INTRODUCTION: SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is an epileptic encephalopathy linked to mutations in th …
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.
Brünger T, Krey I, Kim S, Klöckner C, Myers SJ, Johannesen KM, Stefanski A, Taylor G, Perez-Palma E, Macnee M, Schorge S, Dahl RS, Yuan H, Perszyk RE, Kim S, Bajaj S, Helbig I, Pan JQ, Farrant M, Wollmuth L, Wyllie DJA, Kurganov E, Baez D, Zuberi S, Boßelmann CM, Lerche H, Mantegazza M, Cestèle S, May P, Ivaniuk A, Meskis MA, Hood V, Schust L, Goodspeed K, Kang JQ, Freed A, Gati C, Montanucci L, Wuster A, Trinidad M, Froelich S, Deng AT, Serrano ÁA, Borovikov A, Sharkov A, Bouman A, Hajianpour MJ, Pal DK, Danvoye L, Lederer D, Balci TR, Hagebeuk EEO, Heidlebaugh A, Oetjens K, Hoffman TL, Striano P, Williams SD, van Engelen K, Howell KB, Khoury J, Benke TA, Strehlow V, Platzer K, Ramsey A, Manaster L, Malepati S, Fox P, Noebels J, Chung W, Poduri A, Stripe LL, Ruggiero SM, Cohen S, Smith L, Boesch S, Wilmarth O, Prentice AJ, Cha E, Budnik N, Hommersom MP, Kramer A, Vanoye CG, Zhang GQ, Nothnagel M, Palotie A, Daly MJ, George AL Jr, Zarate YA, Brunklaus A, Traynelis SF, Møller RS, Lemke JR, Lal D. Brünger T, et al. medRxiv [Preprint]. 2026 Mar 6:2026.03.05.26347086. doi: 10.64898/2026.03.05.26347086. medRxiv. 2026. PMID: 41822692 Free PMC article. Preprint.
By organizing evidence that is otherwise dispersed across multiple sources into a unified, queryable framework, the SCN, GRIN, CACNA1A, SATB2 and SLC6A1 Gene Portals became widely used community resources and provide an extensible template for standardized rare-disease var …
By organizing evidence that is otherwise dispersed across multiple sources into a unified, queryable framework, the SCN, GRIN, CACNA1A, SATB …
Genetic architecture and clinical features of Tourette syndrome in a child and adolescent cohort: an explorative clinical exome-based study.
Saia F, Mirabella F, Longhitano A, Maugeri N, Barone R, Rizzo R. Saia F, et al. Front Psychiatry. 2026 Feb 13;17:1744145. doi: 10.3389/fpsyt.2026.1744145. eCollection 2026. Front Psychiatry. 2026. PMID: 41767149 Free PMC article.
Potential causative variants included de novo or inherited mutations in genes implicated in synaptic transmission (PNKD, SLC6A1), ion channels (CACNA1D), chromatin remodeling (BRPF1, KMT2C, SMARCA2), and pleiotropic neurodevelopmental pathways (PTEN, RERE). ...
Potential causative variants included de novo or inherited mutations in genes implicated in synaptic transmission (PNKD, SLC6A1), ion …
Accumulation of Extracellular GABA, Impaired GABAergic Neurotransmission and 4-Phenylbutyrate Rescue in Mice of SLC6A1 Variant-Mediated Disorders.
Zavalin K, Randhave K, Biven M, Shen W, Kang JQ. Zavalin K, et al. bioRxiv [Preprint]. 2026 Jan 21:2026.01.20.700615. doi: 10.64898/2026.01.20.700615. bioRxiv. 2026. PMID: 41648160 Free PMC article. Preprint.
Mutations in SLC6A1 encoding GABA transporter 1 are a leading monogenic cause of developmental and epileptic encephalopathies, severe neurodevelopmental disorders lacking effective treatments. We previously demonstrated that 4-phenylbutyrate restored molecular and function …
Mutations in SLC6A1 encoding GABA transporter 1 are a leading monogenic cause of developmental and epileptic encephalopathies, severe …
De Novo Variation in Autism by Sex and Diagnostic Status in 41,367 Parent-Child Trios.
Turner TN. Turner TN. medRxiv [Preprint]. 2026 Jan 29:2026.01.26.26344889. doi: 10.64898/2026.01.26.26344889. medRxiv. 2026. PMID: 41646820 Free PMC article. Preprint.
Gene-specific enrichment analyses revealed twelve genes that were exome-wide significant and specific to males, for significance, including FOXP1, SMAD6, AUTS2, CCDC168, PIEZO1, EML6, ZNF84, IGSF23, OTOG, SLC6A1, GIGYF1, and FREM3 and four genes that were specific to femal …
Gene-specific enrichment analyses revealed twelve genes that were exome-wide significant and specific to males, for significance, including …
Endoplasmic reticulum protein retention and disturbed proteostasis is a common pathology for a subset of autism: evidence from mutations in GABAA receptors and GABA transporter 1.
Kang JQ, Delahanty A. Kang JQ, et al. Front Mol Neurosci. 2026 Jan 16;18:1671331. doi: 10.3389/fnmol.2025.1671331. eCollection 2025. Front Mol Neurosci. 2026. PMID: 41625255 Free PMC article. Review.
Recent studies have identified that mutations in GABA(A) receptors and the GABA transporter 1(GAT-1) encoding SLC6A1 result in defective protein folding and retention in the endoplasmic reticulum (ER), leading to impaired proteostasis. ...
Recent studies have identified that mutations in GABA(A) receptors and the GABA transporter 1(GAT-1) encoding SLC6A1 result in defect …
Exploring the mechanism and therapeutic potential of BUB1 in regulating esophageal cancer progression based on 5-FU target prediction.
Luo L, Lin Z, Xiong Z, Zhu P, Wang X, Lu J, Li R, Pu J, Song Q. Luo L, et al. Discov Oncol. 2026 Jan 31;17(1):371. doi: 10.1007/s12672-026-04486-3. Discov Oncol. 2026. PMID: 41618008 Free PMC article.
Differential analysis showed that genes such as MMP10 and MYBL2 were up-regulated and SLC6A1 was down-regulated in esophageal cancer tissues, and GSEA based on the results of differential analysis suggested activation of the cancer cell cycle/DNA replication pathway. ...
Differential analysis showed that genes such as MMP10 and MYBL2 were up-regulated and SLC6A1 was down-regulated in esophageal cancer …
Uncovering common genetic risk factors in migraine and epilepsy through whole exome sequencing.
Sahu P, Kashyap S, Kumar A, Munshi A. Sahu P, et al. Epileptic Disord. 2026 Apr;28(2):314-332. doi: 10.1002/epd2.70147. Epub 2025 Dec 12. Epileptic Disord. 2026. PMID: 41386636
In the epilepsy group, variants were detected in sodium channel genes (SCN1A, SCN1B, SCN2A), G protein-coupled receptor (ADGRV1), GLUT-1, and GABA transporters (SLC2A1, SLC6A1), synaptic transporter (STXBP1), and others (ICK, EFHC1, SETD1B, and DEPDC5). In the migraine gro …
In the epilepsy group, variants were detected in sodium channel genes (SCN1A, SCN1B, SCN2A), G protein-coupled receptor (ADGRV1), GLUT-1, an …
567 results