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Page 1
A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.
Miceli F, Striano P, Soldovieri MV, Fontana A, Nardello R, Robbiano A, Bellini G, Elia M, Zara F, Taglialatela M, Mangano S. Miceli F, et al. Epilepsia. 2015 Feb;56(2):e15-20. doi: 10.1111/epi.12887. Epub 2014 Dec 19. Epilepsia. 2015. PMID: 25524373 Free article.
The degree of functional impairment of channels incorporating KCNQ3 R330L subunits was larger than that of channels carrying another KCNQ3 mutation affecting the same codon but leading to a different amino acid substitution (p.R330C), previously identified in two fa …
The degree of functional impairment of channels incorporating KCNQ3 R330L subunits was larger than that of channels carrying another …
Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother.
Longobardi E, Miceli F, Secondo A, Cicatiello R, Izzo A, Tinto N, Moutton S, Tran Mau-Them F, Vitobello A, Taglialatela M. Longobardi E, et al. Stem Cell Res. 2021 May;53:102311. doi: 10.1016/j.scr.2021.102311. Epub 2021 Mar 24. Stem Cell Res. 2021. PMID: 33799276 Free article.
Heterozygous variants in the KCNQ3 gene cause epileptic and/or developmental disorders of varying severity. Here we describe the generation of induced pluripotent stem cells (iPSCs) from a 9-year-old girl with pharmacodependent neonatal-onset epilepsy and intellectual disa …
Heterozygous variants in the KCNQ3 gene cause epileptic and/or developmental disorders of varying severity. Here we describe the gene …
Impact of the KCNQ2/3 Channel Opener Ezogabine on Reward Circuit Activity and Clinical Symptoms in Depression: Results From a Randomized Controlled Trial.
Costi S, Morris LS, Kirkwood KA, Hoch M, Corniquel M, Vo-Le B, Iqbal T, Chadha N, Pizzagalli DA, Whitton A, Bevilacqua L, Jha MK, Ursu S, Swann AC, Collins KA, Salas R, Bagiella E, Parides MK, Stern ER, Iosifescu DV, Han MH, Mathew SJ, Murrough JW. Costi S, et al. Am J Psychiatry. 2021 May 1;178(5):437-446. doi: 10.1176/appi.ajp.2020.20050653. Epub 2021 Mar 3. Am J Psychiatry. 2021. PMID: 33653118 Free PMC article. Clinical Trial.
βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
Wang CC, Ortiz-González XR, Yum SW, Gill SM, White A, Kelter E, Seaver LH, Lee S, Wiley G, Gaffney PM, Wierenga KJ, Rasband MN. Wang CC, et al. Am J Hum Genet. 2018 Jun 7;102(6):1158-1168. doi: 10.1016/j.ajhg.2018.04.012. Epub 2018 May 31. Am J Hum Genet. 2018. PMID: 29861105 Free PMC article.
Modeling the disease in mice revealed that although ankyrinR (AnkR) and betaI spectrin can cluster Na(+) channels and partially compensate for the loss of AnkG and betaIV spectrin at nodes of Ranvier, AnkR and betaI spectrin cannot cluster KCNQ2- and KCNQ3-subunit-containi …
Modeling the disease in mice revealed that although ankyrinR (AnkR) and betaI spectrin can cluster Na(+) channels and partially compensate f …
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Ehtesham N, Mosallaei M, Beheshtian M, Khoshbakht S, Fadaee M, Vazehan R, Faraji Zonooz M, Karimzadeh P, Kahrizi K, Najmabadi H. Ehtesham N, et al. Arch Iran Med. 2022 Dec 1;25(12):788-797. doi: 10.34172/aim.2022.124. Arch Iran Med. 2022. PMID: 37543906 Free PMC article.
METHODS: In this study, we set out to delineate the genotype and phenotype spectrums of 14 Iranian patients from 7 families with intellectual disability (ID) and/or developmental delay (DD) in whom genetic mutations were identified by next-generation sequencing (NGS) in 7 channel …
METHODS: In this study, we set out to delineate the genotype and phenotype spectrums of 14 Iranian patients from 7 families with intellectua …
Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.
Heron SE, Scheffer IE, Grinton BE, Eyre H, Oliver KL, Bain S, Berkovic SF, Mulley JC. Heron SE, et al. Epilepsia. 2010 Sep;51(9):1865-9. doi: 10.1111/j.1528-1167.2010.02558.x. Epilepsia. 2010. PMID: 20384724 Free article.
A family with dominantly inherited neonatal seizures and intellectual disability was atypical for neonatal and infantile seizure syndromes associated with potassium (KCNQ2 and KCNQ3) and sodium (SCN2A) channel mutations. Microsatellite markers linked to KCNQ2, KCNQ3 …
A family with dominantly inherited neonatal seizures and intellectual disability was atypical for neonatal and infantile seizure syndromes a …
The phenotype of 15 cases with rare 8q24.13-q24.3 deletions-A new syndrome or still an enigma?
Maya I, Kahana S, Agmon-Fishman I, Klein C, Matar R, Berger R, Josefsberg SBY, Shohat M, Marom D, Basel-Salmon L, Sagi-Dain L. Maya I, et al. Am J Med Genet A. 2021 May;185(5):1461-1467. doi: 10.1002/ajmg.a.62131. Epub 2021 Feb 22. Am J Med Genet A. 2021. PMID: 33619900
No clear association was noted between the specific disease-causing/high-pLI gene content of the described del (8)(q24.13q24.3) to neurodevelopmental disorders, except for a possibly relevant locus encompassing the KCNQ3 gene. We present the challenges in classification of …
No clear association was noted between the specific disease-causing/high-pLI gene content of the described del (8)(q24.13q24.3) to neurodeve …
An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy.
Chen CP, Lin SP, Liu YP, Chern SR, Wu PS, Su JW, Chen YT, Lee CC, Wang W. Chen CP, et al. Gene. 2013 Oct 15;529(1):176-80. doi: 10.1016/j.gene.2013.07.045. Epub 2013 Aug 7. Gene. 2013. PMID: 23933416
We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of TRPS1, RAD21, EXT1 and KCNQ3 in this case....
We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of TRPS1, RAD21, EXT1 and KCNQ3 in this case. …
The identification of two pathogenic variants in a family with mild and severe forms of developmental delay.
Miyake N, Heydari S, Garshasbi M, Saitoh S, Nasiri J, Hamanaka K, Takata A, Matsumoto N, Beheshti FH, Chaleshtori ARS. Miyake N, et al. J Hum Genet. 2021 Apr;66(4):445-448. doi: 10.1038/s10038-020-0809-8. Epub 2020 Oct 9. J Hum Genet. 2021. PMID: 33037390
Both variants have been previously ascribed to similar clinical phenotypes. In addition, a genetic variant in the KCNQ3 gene was transmitted to his son, who had a mild form of ID. To our knowledge, all individuals with KCNQ3-related developmental delay show de novo …
Both variants have been previously ascribed to similar clinical phenotypes. In addition, a genetic variant in the KCNQ3 gene was tran …
KCNQ/Kv7 channel activator flupirtine protects against acute stress-induced impairments of spatial memory retrieval and hippocampal LTP in rats.
Li C, Huang P, Lu Q, Zhou M, Guo L, Xu X. Li C, et al. Neuroscience. 2014 Nov 7;280:19-30. doi: 10.1016/j.neuroscience.2014.09.009. Epub 2014 Sep 16. Neuroscience. 2014. PMID: 25234320
Acute stress transiently decreased the expression of KCNQ2 and KCNQ3 in the hippocampus. Acute stress impaired the spatial memory retrieval and hippocampal LTP, the KCNQ/Kv7 channel activator flupirtine prevented the impairments, and the protective effects of flupirtine we …
Acute stress transiently decreased the expression of KCNQ2 and KCNQ3 in the hippocampus. Acute stress impaired the spatial memory ret …
11 results