| Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy. | Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy.
Zhang YJ, Wang TS, Zhu XM, Yu LF, Zhang LM, Zhou YF, Wang Y, Zhou SZ. | 04/15/2024 |
| Improved classification and pathogenicity assessment by comprehensive functional studies in a large data set of KCNQ2 variants. | Improved classification and pathogenicity assessment by comprehensive functional studies in a large data set of KCNQ2 variants.
Zhang Y, Xue Y, Ma Y, Du X, Lu B, Wang Y, Yan Z. | 02/9/2024 |
| Familial KCNQ2 mutation: a psychiatric perspective. | Familial KCNQ2 mutation: a psychiatric perspective.
Iftimovici A, Charmet A, Desnous B, Ory A, Delorme R, Coutton C, Devillard F, Milh M, Maruani A., Free PMC Article | 01/12/2024 |
| Prognostic Analysis of KCNQ2 Patients via Combining EEG Deep Features and Machine Learning Classifiers. | Prognostic Analysis of KCNQ2 Patients via Combining EEG Deep Features and Machine Learning Classifiers.
Zeng Z, Xu Y, Zhou Y, Su R, Tao L, Wang Z, Chen C, Chen W. | 12/20/2023 |
| Ligand activation mechanisms of human KCNQ2 channel. | Ligand activation mechanisms of human KCNQ2 channel.
Ma D, Zheng Y, Li X, Zhou X, Yang Z, Zhang Y, Wang L, Zhang W, Fang J, Zhao G, Hou P, Nan F, Yang W, Su N, Gao Z, Guo J., Free PMC Article | 10/30/2023 |
| Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey. | Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey.
Cossu A, Lo Barco T, Proietti J, Dalla Bernardina B, Cantalupo G, Ghobert L, Brambilla I, Giarola E, Costa A, De Benito T, Bethge S, Cardot S, Montwill I, Remonato E, Gramaglia S, Darra F. | 05/12/2023 |
| Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants. | Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.
Chokvithaya S, Caengprasath N, Buasong A, Jantasuwan S, Santawong K, Leela-Adisorn N, Tongkobpetch S, Ittiwut C, Saengow VE, Kamolvisit W, Boonsimma P, Bongsebandhu-Phubhakdi S, Shotelersuk V., Free PMC Article | 03/6/2023 |
| A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to earlyonset epileptic encephalopathy in a female infant. | A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early‑onset epileptic encephalopathy in a female infant.
Liu HF, Yuan TY, Yang JW, Li F, Wang F, Fu HM., Free PMC Article | 07/30/2022 |
| Adult phenotype of KCNQ2 encephalopathy. | Adult phenotype of KCNQ2 encephalopathy.
Boets S, Johannesen KM, Destree A, Manti F, Ramantani G, Lesca G, Vercueil L, Koenig MK, Striano P, Møller RS, Cooper E, Weckhuysen S. | 07/30/2022 |
| KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism. | KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
Miceli F, Millevert C, Soldovieri MV, Mosca I, Ambrosino P, Carotenuto L, Schrader D, Lee HK, Riviello J, Hong W, Risen S, Emrick L, Amin H, Ville D, Edery P, de Bellescize J, Michaud V, Van-Gils J, Goizet C, Willemsen MH, Kleefstra T, Møller RS, Bayat A, Devinsky O, Sands T, Korenke GC, Kluger G, Mefford HC, Brilstra E, Lesca G, Milh M, Cooper EC, Taglialatela M, Weckhuysen S., Free PMC Article | 07/23/2022 |
| Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels. | Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels.
Edmond MA, Hinojo-Perez A, Wu X, Perez Rodriguez ME, Barro-Soria R., Free PMC Article | 06/25/2022 |
| A novel KCNQ2 missense variant in non-syndromic intellectual disability causes mild gain-of-function of Kv7.2 channel. | A novel KCNQ2 missense variant in non-syndromic intellectual disability causes mild gain-of-function of Kv7.2 channel.
Xiong J, Chen S, Chen B, Zhang W, Chen C, Deng X, He F, Zhang C, Yang L, Wang Y, Peng J, Yin F. | 04/23/2022 |
| KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders. | KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders.
Lee IC, Yang JJ, Liou YM, Wong SH., Free PMC Article | 04/16/2022 |
| High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity. | High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
Vanoye CG, Desai RR, Ji Z, Adusumilli S, Jairam N, Ghabra N, Joshi N, Fitch E, Helbig KL, McKnight D, Lindy AS, Zou F, Helbig I, Cooper EC, George AL Jr., Free PMC Article | 04/16/2022 |
| An epilepsy-causing mutation leads to co-translational misfolding of the Kv7.2 channel. | An epilepsy-causing mutation leads to co-translational misfolding of the Kv7.2 channel.
Urrutia J, Aguado A, Gomis-Perez C, Muguruza-Montero A, Ballesteros OR, Zhang J, Nuñez E, Malo C, Chung HJ, Leonardo A, Bergara A, Villarroel A., Free PMC Article | 02/5/2022 |
| Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome. | Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome.
García-Hernández JL, Corchete LA, Marcos-Alcalde Í, Gómez-Puertas P, Fons C, Lazo PA., Free PMC Article | 02/5/2022 |
| PIP2-dependent coupling of voltage sensor and pore domains in Kv7.2 channel. | PIP(2)-dependent coupling of voltage sensor and pore domains in K(v)7.2 channel.
Pant S, Zhang J, Kim EC, Lam K, Chung HJ, Tajkhorshid E., Free PMC Article | 12/25/2021 |
| Posttranscriptional modulation of KCNQ2 gene expression by the miR-106b microRNA family. | Posttranscriptional modulation of KCNQ2 gene expression by the miR-106b microRNA family.
Kim KW, Kim K, Kim HJ, Kim BI, Baek M, Suh BC., Free PMC Article | 12/25/2021 |
| [KCNQ2 gene mutations and neonatal epilepsy].", trans "Mutaciones en el gen KCNQ2 y epilepsia neonatal. | KCNQ2 gene mutations and neonatal epilepsy.
García Castellanos MT, López Pisón J, Pérez Delgado R. | 12/18/2021 |
| Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder. | Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder.
Xu Y, Dou YL, Chen X, Dong XR, Wang XH, Wu BB, Cheng GQ, Zhou YF., Free PMC Article | 12/11/2021 |
| KCNQ2-DEE: developmental or epileptic encephalopathy? | KCNQ2-DEE: developmental or epileptic encephalopathy?
Berg AT, Mahida S, Poduri A., Free PMC Article | 11/6/2021 |
| Capturing seizures in clinical trials of antiseizure medications for KCNQ2-DEE. | Capturing seizures in clinical trials of antiseizure medications for KCNQ2-DEE.
Millichap JJ, Harden CL, Dlugos DJ, French JA, Butterfield NN, Grayson C, Aycardi E, Pimstone SN., Free PMC Article | 10/23/2021 |
| Clinical characteristics of KCNQ2 encephalopathy. | Clinical characteristics of KCNQ2 encephalopathy.
Kim HJ, Yang D, Kim SH, Won D, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC. | 10/9/2021 |
| Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy. | Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
Mary L, Nourisson E, Feger C, Laugel V, Chaigne D, Keren B, Afenjar A, Billette T, Trost D, Cieuta-Walti C, Gerard B, Piton A, Schaefer E. | 09/4/2021 |
| Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion. | Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion.
Shibata A, Kasai M, Terashima H, Hoshino A, Miyagawa T, Kikuchi K, Ishii A, Matsumoto H, Kubota M, Hirose S, Oka A, Mizuguchi M. | 05/15/2021 |