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Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H, Yis U, Saunders C, Rook M, Plugge S, Muhle H, Afawi Z, Klein KM, Jayaraman V, Rajagopalan R, Goldberg E, Marsh E, Kessler S, Bergqvist C, Conlin LK, Krok BL, Thiffault I, Pendziwiat M, Helbig I, Polster T, Borggraefe I, Lemke JR, van den Boogaardt MJ, Møller RS, Koeleman BPC. de Kovel CGF, et al. JAMA Neurol. 2017 Oct 1;74(10):1228-1236. doi: 10.1001/jamaneurol.2017.1714. JAMA Neurol. 2017. PMID: 28806457 Free PMC article.
OBJECTIVES: To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations. DESIGN, SETTING, AND PARTICIPANTS: This study summarized the clinical and genetic information of patients with a presumed pathogenic variant in …
OBJECTIVES: To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations. DESIGN, SETT …
Spectrum of K(V) 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
Kang SK, Vanoye CG, Misra SN, Echevarria DM, Calhoun JD, O'Connor JB, Fabre KL, McKnight D, Demmer L, Goldenberg P, Grote LE, Thiffault I, Saunders C, Strauss KA, Torkamani A, van der Smagt J, van Gassen K, Carson RP, Diaz J, Leon E, Jacher JE, Hannibal MC, Litwin J, Friedman NR, Schreiber A, Lynch B, Poduri A, Marsh ED, Goldberg EM, Millichap JJ, George AL Jr, Kearney JA. Kang SK, et al. Ann Neurol. 2019 Dec;86(6):899-912. doi: 10.1002/ana.25607. Epub 2019 Oct 24. Ann Neurol. 2019. PMID: 31600826 Free PMC article.
OBJECTIVE: Pathogenic variants in KCNB1, encoding the voltage-gated potassium channel K(V) 2.1, are associated with developmental and epileptic encephalopathy (DEE). ...INTERPRETATION: Our study establishes a platform for rapid screening of K(V) 2.1 functional defects caus …
OBJECTIVE: Pathogenic variants in KCNB1, encoding the voltage-gated potassium channel K(V) 2.1, are associated with developmental and …
Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.
Schönewolf-Greulich B, Bisgaard AM, Møller RS, Dunø M, Brøndum-Nielsen K, Kaur S, Van Bergen NJ, Lunke S, Eggers S, Jespersgaard C, Christodoulou J, Tümer Z. Schönewolf-Greulich B, et al. Clin Genet. 2019 Feb;95(2):221-230. doi: 10.1111/cge.13153. Epub 2018 Jan 25. Clin Genet. 2019. PMID: 29023665 Review.
In this study we have combined a review of Rett-like disorders with data from a Danish cohort of 35 patients with Rett-like phenotypes emphasizing the diagnostic overlap with Pitt-Hopkins syndrome, Cornelia de Lange syndrome with SMC1A variants, and epileptic encephalopathies, fo …
In this study we have combined a review of Rett-like disorders with data from a Danish cohort of 35 patients with Rett-like phenotypes empha …
Increased diagnostic yield in complex dystonia through exome sequencing.
Wirth T, Tranchant C, Drouot N, Keren B, Mignot C, Cif L, Lefaucheur R, Lion-François L, Méneret A, Gras D, Roze E, Laroche C, Burbaud P, Bannier S, Lagha-Boukbiza O, Spitz MA, Laugel V, Bereau M, Ollivier E, Nitschke P, Doummar D, Rudolf G, Anheim M, Chelly J. Wirth T, et al. Parkinsonism Relat Disord. 2020 May;74:50-56. doi: 10.1016/j.parkreldis.2020.04.003. Epub 2020 Apr 20. Parkinsonism Relat Disord. 2020. PMID: 32334381
By using Whole Exome Sequencing (WES), we aimed to identify the missing genetic causes in dystonic patients without diagnosis despite gene panel sequencing. ...RESULTS: We identified causative variants for 11 patients from 9 families in CTNNB1, SUCLG1, NUS1, CNTNAP1, KC …
By using Whole Exome Sequencing (WES), we aimed to identify the missing genetic causes in dystonic patients without diagnosis despite …
Genome-wide association study identifies single-nucleotide polymorphism in KCNB1 associated with left ventricular mass in humans: the HyperGEN Study.
Arnett DK, Li N, Tang W, Rao DC, Devereux RB, Claas SA, Kraemer R, Broeckel U. Arnett DK, et al. BMC Med Genet. 2009 May 19;10:43. doi: 10.1186/1471-2350-10-43. BMC Med Genet. 2009. PMID: 19454037 Free PMC article.

Eleven SNPs were successfully genotyped in the validation study of 704 Caucasians and 1467 African Americans; 5 SNPs on chromosomes 5, 12, and 20 were significantly (P < or = 0.05) associated with LV mass after correction for multiple testing. One SNP (rs756529) is intr

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Eleven SNPs were successfully genotyped in the validation study of 704 Caucasians and 1467 African Americans; 5 SNPs on chromosomes 5, 12, a …
Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel KV6.4 Subunit.
Lee MC, Nahorski MS, Hockley JRF, Lu VB, Ison G, Pattison LA, Callejo G, Stouffer K, Fletcher E, Brown C, Drissi I, Wheeler D, Ernfors P, Menon D, Reimann F, Smith ESJ, Woods CG. Lee MC, et al. Cell Rep. 2020 Jul 21;32(3):107941. doi: 10.1016/j.celrep.2020.107941. Cell Rep. 2020. PMID: 32697988 Free PMC article.
By studying healthy women who do not request analgesia during their first delivery, we investigate genetic effects on labor pain. Such women have normal sensory and psychometric test results, except for significantly higher cuff pressure pain. ...
By studying healthy women who do not request analgesia during their first delivery, we investigate genetic effects on labor pain. Suc …
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
Allen NM, Conroy J, Shahwan A, Lynch B, Correa RG, Pena SD, McCreary D, Magalhães TR, Ennis S, Lynch SA, King MD. Allen NM, et al. Epilepsia. 2016 Jan;57(1):e12-7. doi: 10.1111/epi.13250. Epub 2015 Dec 9. Epilepsia. 2016. PMID: 26648591 Free article.
We characterized all phenotypes in detail and classified children according to known electroclinical syndromes where possible. Infants with previous genetic diagnoses, causative brain malformations, or inborn errors of metabolism were excluded. ...Eleven variants were de n …
We characterized all phenotypes in detail and classified children according to known electroclinical syndromes where possible. Infants with …