| KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3. | KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
de Guimaraes TAC, Georgiou M, Robson AG, Fujinami K, Vincent A, Nasser F, Khateb S, Mahroo OA, Pontikos N, Vargas ME, Thiadens AAHJ, Carvalho ER, Nguyen XT, Arno G, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Jiménez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Salas EC, Garcia-Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Banin E, Pennesi ME, Khan AO, Wissinger B, Webster AR, Heon E, Boon CJF, Zrenner E, Michaelides M., Free PMC Article | 07/24/2024 |
| Initial diagnoses of patients found to be homozygous for a KCNV2 founder mutation on the Arabian Peninsula (c.427G>T; p.Glu143*). | Initial diagnoses of patients found to be homozygous for a KCNV2 founder mutation on the Arabian Peninsula (c.427G>T; p.Glu143*).
Khan Z, Khan AO. | 09/22/2023 |
| Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family. | Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family.
Liu M, Zhu Y, Huang L, Jiang W, Wu N, Song Y, Lu Y, Ma Y., Free PMC Article | 03/26/2022 |
| KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2. | KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2.
Georgiou M, Fujinami K, Vincent A, Nasser F, Khateb S, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, De Guimarães TAC, Robson AG, Mahroo OA, Pontikos N, Arno G, Fujinami-Yokokawa Y, Leo SM, Liu X, Tsunoda K, Hayashi T, Jimenez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Carreño E, Garcia-Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Boon CJF, Banin E, Pennesi ME, Wissinger B, Webster AR, Héon E, Khan AO, Zrenner E, Michaelides M., Free PMC Article | 01/29/2022 |
| A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response. | A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response.
Liu PK, Ryu J, Yeh LK, Chen KJ, Tsang SH, Liu L, Wang NK., Free PMC Article | 01/29/2022 |
| Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant. | Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant.
Esteves-Leandro J, Torres-Costa S, Estrela-Silva S, Santos-Silva R, Brandão E, Grangeia A, Fernandes S, Oliveira R, Falcão-Reis F, Rocha-Sousa A. | 01/22/2022 |
| KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1. | KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.
Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M., Free PMC Article | 07/24/2021 |
| Molecular, Cellular and Functional Changes in the Retinas of Young Adult Mice Lacking the Voltage-Gated K(+) Channel Subunits Kv8.2 and K2.1. | Molecular, Cellular and Functional Changes in the Retinas of Young Adult Mice Lacking the Voltage-Gated K(+) Channel Subunits Kv8.2 and K2.1.
Jiang X, Rashwan R, Voigt V, Nerbonne J, Hunt DM, Carvalho LS., Free PMC Article | 06/19/2021 |
| KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy. | KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.
Guimaraes TAC, Georgiou M, Robson AG, Michaelides M., Free PMC Article | 04/13/2021 |
| Biallelic loss-of-function KCNV2 variants (p.W67X and p.D174GfsX198) were identified as the cause of cone dystrophy with supernormal rod responses (CDSRR). Long-term FF-ERG findings demonstrated there were no ERG changes during 15 years of observation, indicating that there was no evidence of progressive peripheral retinal dysfunction, in spite of worsening macular atrophy. | Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses.
Kutsuma T, Katagiri S, Hayashi T, Yoshitake K, Iejima D, Gekka T, Kohzaki K, Mizobuchi K, Baba Y, Terauchi R, Matsuura T, Ueno S, Iwata T, Nakano T. | 07/27/2019 |
| Pharmacogenetic and case-control study evaluated the role of the variants of KCNA1, KCNA2, and KCNV2 in the susceptibility and drug resistance of genetic generalized epilepsies and revealed no significant association between 8 variants of KCNA1, KCNA2, and KCNV2 genes and risk or drug resistance of genetic generalized epilepsies after a Bonferroni correction for multiple comparisons. | Pharmacogenetic and case-control study on potassium channel related gene variants and genetic generalized epilepsy.
Qu J, Lu SH, Lu ZL, Xu P, Xiang DX, Qu Q., Free PMC Article | 07/22/2017 |
| The 2 mutations identified are novel and thus expand the current knowledge of Retinal Cone Dystrophy 3B genotype-phenotype descriptions in the literature. | Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response.
Lenis TL, Dhrami-Gavazi E, Lee W, Mukkamala SK, Tabacaru MR, Yannuzzi L, Gouras P, Tsang SH., Free PMC Article | 01/18/2014 |
| This is the first report of genetic and clinical analysis of cone dystrophy with supernormal rod response in the Israeli population leading to the identification of 4 novel KCNV2 mutations. | Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.
Zelinger L, Wissinger B, Eli D, Kohl S, Sharon D, Banin E. | 01/11/2014 |
| Compound heterozygosity for the two alleles of KCNV2, p.C177R and p.G461R, in three patients, and homozygosity for complex alleles, p.R27H and p.R206P, in one patient from the consanguineous family, is reported. | Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants.
Fujinami K, Tsunoda K, Nakamura N, Kato Y, Noda T, Shinoda K, Tomita K, Hatase T, Usui T, Akahori M, Itabashi T, Iwata T, Ozawa Y, Tsubota K, Miyake Y., Free PMC Article | 09/28/2013 |
| Central vision parameters progressively worsen in KCNV2 cone dystrophy, structural retinal and lipofuscin accumulation abnormalities are commonly present and macular cone photoreceptor mosaic is markedly disrupted early in the disease. | Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".
Vincent A, Wright T, Garcia-Sanchez Y, Kisilak M, Campbell M, Westall C, Héon E., Free PMC Article | 03/30/2013 |
| KCNV2 mutations cause a unique form of retinal disorder illustrating the importance of K(+)-channels for the resting potential, activation and deactivation of photoreceptors, while phototransduction remains unchanged | Rod and cone function in patients with KCNV2 retinopathy.
Zobor D, Kohl S, Wissinger B, Zrenner E, Jägle H., Free PMC Article | 03/23/2013 |
| important finding leading to identification of KCNV2 as a candidate gene for causative mutations was the characteristic pattern of findings on full field ERGs. | Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.
Ritter M, Vodopiutz J, Lechner S, Moser E, Schmidt-Erfurth UM, Janecke AR. | 03/16/2013 |
| two pore mutations (W467G and G478R) led to the formation of nonconducting heteromeric Kv2.1/Kv8.2 channels | Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram.
Smith KE, Wilkie SE, Tebbs-Warner JT, Jarvis BJ, Gallasch L, Stocker M, Hunt DM., Free PMC Article | 03/2/2013 |
| For all patients, KCNV2 sequencing revealed one of three homozygous recessive mutations | 'Cone dystrophy with supranormal rod response' in children.
Khan AO, Alrashed M, Alkuraya FS. | 04/7/2012 |
| In this study, we found that KCNV2 mutations are present in a substantial fraction (2.2-4.3%) of a sample of 367 independent patients with a variety of initial clinical diagnoses of cone malfunctino. | Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S. | 03/31/2012 |
| In KCNV2 retinopathy foveal morphological changes are evident on SD-OCT even in the early stages of disease. | High-resolution optical coherence tomography imaging in KCNV2 retinopathy.
Sergouniotis PI, Holder GE, Robson AG, Michaelides M, Webster AR, Moore AT. | 03/3/2012 |
| Early ocular phenotype in siblings with a homozygous p.G461R mutation in the KCNV2 gene presented nystagmus, increased light sensitivity, reduced color discrimination, and relative central scotomas. | Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.
Friedburg C, Wissinger B, Schambeck M, Bonin M, Kohl S, Lorenz B. | 01/7/2012 |
| Results demonstrate that altered potassium subunit function influences epilepsy susceptibility and implicate Kcnv2 as an epilepsy gene. | Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility.
Jorge BS, Campbell CM, Miller AR, Rutter ED, Gurnett CA, Vanoye CG, George AL Jr, Kearney JA., Free PMC Article | 06/18/2011 |
| Individuals with mutations in KCNV2 manifest a wide range of macular and autofluorescence abnormalities. | "Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.
Robson AG, Webster AR, Michaelides M, Downes SM, Cowing JA, Hunt DM, Moore AT, Holder GE. | 03/8/2010 |
| Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol. | Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol.
Balijepalli RC, Delisle BP, Balijepalli SY, Foell JD, Slind JK, Kamp TJ, January CT. | 01/21/2010 |