| Idiopathic generalized epilepsy in a family with SCN4A-related myotonia. | Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.
Talarico M, Fortunato F, Labalme A, Januel L, Chatron N, Sanlaville D, Sammarra I, Gagliardi M, Procopio R, Valentino P, Annesi G, Lesca G, Gambardella A., Free PMC Article | 06/14/2024 |
| A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia. | A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.
Campanale C, Laghetti P, Saltarella I, Altamura C, Canioni E, Iosa E, Maggi L, Brugnoni R, Tacconi P, Desaphy JF., Free PMC Article | 05/7/2024 |
| [Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene]. | [Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene].
Meng F, Shi Y, Ju D, Wang X, Dong H, Li X, Li X, Zhou X. | 04/5/2024 |
| [Two cases of potassium-aggravated myotonia induced by SCN4A gene variation]. | [Two cases of potassium-aggravated myotonia induced by SCN4A gene variation].
Zhang YJ, Dai LF, Ren SS, Ding CH. | 11/1/2023 |
| Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4. | Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4.
Segawa K, Nishiyama M, Mori I, Kubota T, Takahashi MP. | 03/16/2023 |
| Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study. | Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study.
Vacchiano V, Brugnoni R, Campanale C, Imbrici P, Dinoi G, Canioni E, Laghetti P, Saltarella I, Altamura C, Maggi L, Liguori R, Donadio V, Desaphy JF. | 03/7/2023 |
| Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations. | Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.
Shibano M, Kubota T, Kokubun N, Miyaji Y, Kuriki H, Ito Y, Hamanoue H, Takahashi MP. | 11/26/2022 |
| Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia. | Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia.
Ke Q, Zhao Y, Li Y, Ye J, Tang S, He F, Ji F, Dai X, Ni J, Li Y, Griggs RC, Cheng X. | 11/5/2022 |
| Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people. | Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people.
Meng YX, Yu M, Liu C, Zhang H, Yang Y, Zhang J., Free PMC Article | 08/6/2022 |
| Differences in local anaesthetic and antiepileptic binding in the inactivated state of human sodium channel Nav1.4. | Differences in local anaesthetic and antiepileptic binding in the inactivated state of human sodium channel Nav1.4.
Buyan A, Whitfield AA, Corry B., Free PMC Article | 03/26/2022 |
| Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes. | Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Brugnoni R, Canioni E, Filosto M, Pini A, Tonin P, Rossi T, Canavese C, Eoli M, Siciliano G, Lauria G, Mantegazza R, Maggi L. | 03/19/2022 |
| Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations. | Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations.
Sun J, Luo S, Suetterlin KJ, Song J, Huang J, Zhu W, Xi J, Zhou L, Lu J, Lu J, Zhao C, Hanna MG, Männikkö R, Matthews E, Qiao K. | 01/29/2022 |
| Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report. | Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.
Nan H, Wu Y, Cui S, Sun H, Wang J, Li Y, Meng L, Nagasaka T, Wu L., Free PMC Article | 01/15/2022 |
| p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome. | p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.
Rigamonti A, Mantero V, Peverelli L, Pagliarani S, Lucchiari S, Comi G, Gibertini S, Salmaggi A. | 12/11/2021 |
| Cannabidiol inhibits the skeletal muscle Nav1.4 by blocking its pore and by altering membrane elasticity. | Cannabidiol inhibits the skeletal muscle Nav1.4 by blocking its pore and by altering membrane elasticity.
Ghovanloo MR, Choudhury K, Bandaru TS, Fouda MA, Rayani K, Rusinova R, Phaterpekar T, Nelkenbrecher K, Watkins AR, Poburko D, Thewalt J, Andersen OS, Delemotte L, Goodchild SJ, Ruben PC., Free PMC Article | 10/23/2021 |
| Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients. | Functional and Structural Characterization of ClC-1 and Na(v)1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.
Brenes O, Barbieri R, Vásquez M, Vindas-Smith R, Roig J, Romero A, Valle GD, Bermúdez-Guzmán L, Bertelli S, Pusch M, Morales F., Free PMC Article | 10/16/2021 |
| Mutation spectrum and health status in skeletal muscle channelopathies in Japan. | Mutation spectrum and health status in skeletal muscle channelopathies in Japan.
Sasaki R, Nakaza M, Furuta M, Fujino H, Kubota T, Takahashi MP. | 08/14/2021 |
| Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant. | Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant.
Avila-Smirnow D, Vargas Leal CP, Beytía Reyes MLA, Cortés Zepeda R, Escobar RG, Kleinsteuber Saa K, Lagos Lucero M, Avaria Benapres MLA, Padilla Pérez O, Casar Leturia JC, Mellado Sagredo C, Sternberg D. | 08/14/2021 |
| Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing. | Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing.
Tan X, Hu S, Xie Z, Mei H, Liu Y, Yin L, Shi P, Chen Q, Sang D., Free PMC Article | 06/19/2021 |
| Potential predictive value of SCN4A mutation status for immune checkpoint inhibitors in melanoma. | Potential predictive value of SCN4A mutation status for immune checkpoint inhibitors in melanoma.
Lin W, Lin A, Li Z, Zhou C, Chen C, Chen B, Lyu Q, Zhang J, Luo P. | 02/20/2021 |
| [A novel mutation of SCN4A gene causes hypokalemic periodic paralysis in a Chinese family]. | [A novel mutation of SCN4A gene causes hypokalemic periodic paralysis in a Chinese family].
Li HY, Zhou XL, Guo JF, Tang BS, Fu YJ, Sun JY. | 12/26/2020 |
| [Clinical, myopathological and genetic features of two Chinese families with paramyotonia congenita]. | [Clinical, myopathological and genetic features of two Chinese families with paramyotonia congenita].
Song J, Zhang JW, Fu J, Pang M, Li G, Ma MM. | 11/21/2020 |
| The p.V445M mutation in the Na(v)1.4 channel results in an increase of both sustained and resurgent Na(+) currents, which may contribute to hyperexcitability with repetitive firing and is likely to facilitate recurrent myotonia in Sodium Channel Myotonia patients. | Changes of Resurgent Na(+) Currents in the Na(v)1.4 Channel Resulting from an SCN4A Mutation Contributing to Sodium Channel Myotonia.
Huang CW, Lai HJ, Lin PC, Lee MJ., Free PMC Article | 04/25/2020 |
| Four probands had a pathogenic variant in SCN4A. A diagnostic yield of 51% was achieved; of which 88% had pathogenic variants in CLCN1 and 12% in SCN4A. | Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.
Milla CP, De Castro CP, Gómez-González C, Martínez-Montero P, Pascual Pascual SI, Molano Mateos J. | 02/15/2020 |
| This report identifies a new residue in NaV1.4 (R1460) where missense mutations were identified in patients with recessive myasthenic congenital myopathy. | Myasthenic congenital myopathy from recessive mutations at a single residue in Na(V)1.4.
Elia N, Palmio J, Castañeda MS, Shieh PB, Quinonez M, Suominen T, Hanna MG, Männikkö R, Udd B, Cannon SC., Free PMC Article | 12/14/2019 |