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2016 3
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36 results

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Page 1
X-Linked Epilepsies: A Narrative Review.
Bernardo P, Cuccurullo C, Rubino M, De Vita G, Terrone G, Bilo L, Coppola A. Bernardo P, et al. Int J Mol Sci. 2024 Apr 8;25(7):4110. doi: 10.3390/ijms25074110. Int J Mol Sci. 2024. PMID: 38612920 Free PMC article. Review.
In this review, we comprehensively describe the main features of both X-linked epileptic syndromes thoroughly characterized to date (PCDH19-related DEE, CDKL5-related DEE, MECP2-related disorders), forms of epilepsy related to X-linked neuronal migration disorders (e.g., ARX, DCX …
In this review, we comprehensively describe the main features of both X-linked epileptic syndromes thoroughly characterized to date (PCDH19- …
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
McKnight D, Bean L, Karbassi I, Beattie K, Bienvenu T, Bonin H, Fang P, Chrisodoulou J, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Neul J, Percy A, Ramsden S, Zoghbi H, Das S. McKnight D, et al. Hum Mutat. 2022 Aug;43(8):1097-1113. doi: 10.1002/humu.24302. Epub 2021 Dec 2. Hum Mutat. 2022. PMID: 34837432 Free PMC article.
The genes MECP2, CDKL5, FOXG1, UBE3A, SLC9A6, and TCF4 present unique challenges for current ACMG/AMP variant interpretation guidelines. ...
The genes MECP2, CDKL5, FOXG1, UBE3A, SLC9A6, and TCF4 present unique challenges for current ACMG/AMP variant interpretation guidelin …
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults.
Kavanaugh BC, Elacio J, Best CR, St Pierre DG, Pescosolido MF, Ouyang Q, Biedermann J, Bradley RS, Liu JS, Jones RN, Morrow EM. Kavanaugh BC, et al. J Med Genet. 2024 Oct 23;61(11):1031-1039. doi: 10.1136/jmg-2024-109973. J Med Genet. 2024. PMID: 39237363 Free PMC article.
OBJECTIVES: Mutations in the X-linked endosomal Na+/H+ exchanger 6 (NHE6) cause Christianson syndrome (CS). Here, in the largest study to date, we examine genetic diversity and clinical progression in CS into adulthood. METHOD: Data were collected as part of the Internatio …
OBJECTIVES: Mutations in the X-linked endosomal Na+/H+ exchanger 6 (NHE6) cause Christianson syndrome (CS). Here, in the largest stud …
Histone deacetylase-mediated regulation of endolysosomal pH.
Prasad H, Rao R. Prasad H, et al. J Biol Chem. 2018 May 4;293(18):6721-6735. doi: 10.1074/jbc.RA118.002025. Epub 2018 Mar 22. J Biol Chem. 2018. PMID: 29567836 Free PMC article.
Bioinformatics analysis of Drosophila and mouse databases revealed that caloric control of the Nhx1 orthologs DmNHE3 and NHE6, respectively, is also mediated by HDACs. We show that NHE6 is a target of the transcription factor cAMP-response element-binding protein (C …
Bioinformatics analysis of Drosophila and mouse databases revealed that caloric control of the Nhx1 orthologs DmNHE3 and NHE6, respec …
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.
Mir A, Almudhry M, Alghamdi F, Albaradie R, Ibrahim M, Aldurayhim F, Alhedaithy A, Alamr M, Bawazir M, Mohammad S, Abdelhay S, Bashir S, Housawi Y. Mir A, et al. Hum Genet. 2022 Jan;141(1):81-99. doi: 10.1007/s00439-021-02404-x. Epub 2021 Nov 19. Hum Genet. 2022. PMID: 34797406
We identified the following SLC gene variants in 25 patients in our cohort: SLC1A2, SLC2A1, SLC5A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SLC9A9, SLC12A6, SLC13A5, SLC16A1, SLC17A5, SLC19A3, SLC25A12, SLC25A15, SLC27A4, SLC45A1, SLC46A1, and SLC52A3. Eight patients harbored path …
We identified the following SLC gene variants in 25 patients in our cohort: SLC1A2, SLC2A1, SLC5A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, S …
Targeting NHE6 gene expression identifies lysosome and neurodevelopmental mechanisms in a haploid in vitro cell model.
Wu Q, Ma L, Joesch-Cohen L, Schmidt M, Uzun EDG, Morrow EM. Wu Q, et al. Biol Open. 2023 Nov 15;12(11):bio059778. doi: 10.1242/bio.059778. Epub 2023 Nov 29. Biol Open. 2023. PMID: 37747131 Free PMC article.
To define transcriptome signatures of NHE6 LoF, we conducted in-depth RNA-sequencing (RNA-seq) analysis on a haploid NHE6 null cell model. ...NHE6 mutant cell lines were confirmed to have intra-endosomal over-acidification as was seen in other NHE6 nul …
To define transcriptome signatures of NHE6 LoF, we conducted in-depth RNA-sequencing (RNA-seq) analysis on a haploid NHE6 null …
Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability.
Hussain SI, Muhammad N, Shah SUD, Fardous F, Khan SA, Khan N, Rehman AU, Siddique M, Wasan SA, Niaz R, Ullah H, Khan N, Muhammad N, Mirza MU, Wasif N, Khan S. Hussain SI, et al. BMC Neurol. 2023 Oct 4;23(1):353. doi: 10.1186/s12883-023-03397-y. BMC Neurol. 2023. PMID: 37794328 Free PMC article.
Recently, it was discovered that patients with acute reversible leukoencephalopathy and a-ketoglutarate accumulation (ARLIAK) carry pathogenic mutations in the SLC13A3 gene, and the X-linked neurodevelopmental condition Christianson Syndrome is caused by mutations in the SLC9A …
Recently, it was discovered that patients with acute reversible leukoencephalopathy and a-ketoglutarate accumulation (ARLIAK) carry pathogen …
Human rotavirus strain Wa downregulates NHE1 and NHE6 expressions in rotavirus-infected Caco-2 cells.
Chen H, Song L, Li G, Chen W, Zhao S, Zhou R, Shi X, Peng Z, Zhao W. Chen H, et al. Virus Genes. 2017 Jun;53(3):367-376. doi: 10.1007/s11262-017-1444-0. Epub 2017 Mar 13. Virus Genes. 2017. PMID: 28289928
Finally, intracellular Ca(2+) concentration was detected by confocal laser scanning microscopy. The results demonstrated that the NHE6 mRNA and protein expressed in the human colon adenocarcinoma cell line (Caco-2). Furthermore, RV-Wa induced decreased expression of the NH …
Finally, intracellular Ca(2+) concentration was detected by confocal laser scanning microscopy. The results demonstrated that the NHE6 …
Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome.
Ilie A, Boucher A, Park J, Berghuis AM, McKinney RA, Orlowski J. Ilie A, et al. J Biol Chem. 2020 May 15;295(20):7075-7095. doi: 10.1074/jbc.RA120.012614. Epub 2020 Apr 10. J Biol Chem. 2020. PMID: 32277048 Free PMC article.
Genetic screening has identified numerous variants of the endosomal solute carrier family 9 member A6 (SLC9A6)/(Na(+),K(+))/H(+) exchanger 6 (NHE6) gene that cause Christianson syndrome, a debilitating X-linked developmental disorder associated with a range of neuro …
Genetic screening has identified numerous variants of the endosomal solute carrier family 9 member A6 (SLC9A6)/(Na(+),K(+))/H(+) exch …
Missense variants in SLC9A6 cause partial epilepsy without neurodevelopmental delay.
Jiao JP, Zhang HW, Zhou XZ, Tian SJ, Gao L, Li BM, Luo JX, Wang J, Lan S, Li B, Liao WP. Jiao JP, et al. Orphanet J Rare Dis. 2025 Jul 28;20(1):380. doi: 10.1186/s13023-025-03924-9. Orphanet J Rare Dis. 2025. PMID: 40722028 Free PMC article.
SLC9A6 variants are associated with Christianson Syndrome, a severe neurodevelopmental disorder that is accompanied by seizures. ...Previously reported SLC9A6 variants were reviewed to analyze the mechanism underlying phenotype variations. ...
SLC9A6 variants are associated with Christianson Syndrome, a severe neurodevelopmental disorder that is accompanied by seizures. ...P …
36 results