| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| S\\xc3\\xadlvia Corr\\xc3\\xaaa, Roberta Martins Basso, Fabricio Moreira Cerri, Jos\\xc3\\xa9 Paes de Oliveira-Filho, Jo\\xc3\\xa3o Pessoa Ara\\xc3\\xbajo, Sandra Regina Torelli, Livia Pinheiro Chagas da Cunha Sal\\xc3\\xa1n, Maur\\xc3\\xadcio Oliveira Sal\\xc3\\xa1n, Isabella Zeque Macedo, Alexandre Secorun Borge. Hereditary myotonia in cats associated with a new homozygous missense variant p.Ala331Pro in the muscle chloride channel ClC-1. Journal of veterinary internal medicine. 2023-09-05. PMID:37668104. |
this is the third clcn1 mutation described in the literature associated with hereditary myotonia in cats and the first in domestic animals located in an extracellular muscle clc-1 loop. |
2023-09-05 |
2023-09-07 |
human |
| G\\xc3\\xb6k\\xc3\\xa7en \\xc3\\x96z Tun\\xc3\\xa7er, Asl\\xc4\\xb1han Sanri, Seren Aydin, \\xc3\\x96zlem M Herg\\xc3\\xbcner, Nezir \\xc3\\x96zg\\xc3\\xbcn, Mustafa K\\xc3\\xb6m\\xc3\\xbcr, Dilara F \\xc4\\xb0\\xc3\\xa7a\\xc4\\x9fasio\\xc4\\x9flu, Rabia T\\xc3\\xbct\\xc3\\xbcnc\\xc3\\xbc Toker, Sanem Yilmaz, Elif Acar Arslan, Mesut G\\xc3\\xbcng\\xc3\\xb6r, G\\xc3\\xbcltekin Kutluk, \\xc4\\xb0lknur Erol, G\\xc3\\xbclen G\\xc3\\xbcl Mert, Bur\\xc3\\xa7in G\\xc3\\xb6n\\xc3\\xbcll\\xc3\\xbc Polat, Ay\\xc5\\x9fe Akso. Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children. Journal of neuromuscular diseases. 2023-06-25. PMID:37355912. |
myotonia congenita is the most common form of nondystrophic myotonia and is caused by mendelian inherited mutations in the clcn1 gene encoding the voltage-gated chloride channel of skeletal muscle. |
2023-06-25 |
2023-08-14 |
Not clear |
| Jo\\xc3\\xa3o Igor Dantas Landim, Ian Silva Ribeiro, Eduardo Braga Oliveira, Hermany Capistrano Freitas, Lara Albuquerque Brito, Isaac Holanda Mendes Maia, Daniel Gurgel Fernandes T\\xc3\\xa1vora, Cleonisio Leite Rodrigue. Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report. BMC neurology. vol 23. issue 1. 2023-04-27. PMID:37106355. |
neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on pnpla2 and clcn1 genes: case report. |
2023-04-27 |
2023-08-14 |
Not clear |
| Jo\\xc3\\xa3o Igor Dantas Landim, Ian Silva Ribeiro, Eduardo Braga Oliveira, Hermany Capistrano Freitas, Lara Albuquerque Brito, Isaac Holanda Mendes Maia, Daniel Gurgel Fernandes T\\xc3\\xa1vora, Cleonisio Leite Rodrigue. Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report. BMC neurology. vol 23. issue 1. 2023-04-27. PMID:37106355. |
we will report a rare case of association of pathogenic variants on pnpla2 and clcn1 genes with a mixed phenotype of nlsd-m and a subclinical form of thomsen's congenital myotonia. |
2023-04-27 |
2023-08-14 |
Not clear |
| Ningyan Hu, Eunjoo Kim, Layal Antoury, Thurman M Wheele. Correction of Clcn1 alternative splicing reverses muscle fiber type transition in mice with myotonic dystrophy. Nature communications. vol 14. issue 1. 2023-04-07. PMID:37029100. |
in myotonic dystrophy type 1 (dm1), deregulated alternative splicing of the muscle chloride channel clcn1 causes myotonia, a delayed relaxation of muscles due to repetitive action potentials. |
2023-04-07 |
2023-08-14 |
mouse |
| M F Martos-Lirio, R Calvo-Medina, C Ruiz-Garc\\xc3\\xada, J M Ramos-Fern\\xc3\\xa1nde. [Congenital myotonia. Incidence and presentation of a series of cases]. Revista de neurologia. vol 76. issue 4. 2023-02-14. PMID:36782350. |
myotonia congenita is the most common form of genetic myotonia and is caused by mutations in the clcn1 gene. |
2023-02-14 |
2023-08-14 |
Not clear |
| Veria Vacchiano, Raffaella Brugnoni, Carmen Campanale, Paola Imbrici, Giorgia Dinoi, Canioni Eleonora, Paola Laghetti, Ilaria Saltarella, Concetta Altamura, Lorenzo Maggi, Rocco Liguori, Vincenzo Donadio, Jean-Fran\\xc3\\xa7ois Desaph. Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study. Experimental neurology. 2023-01-31. PMID:36720299. |
myotonia congenita caused by clcn1 gene mutations, as well as paramyotonia congenita and sodium channel myotonia caused by scn4a gene mutations. |
2023-01-31 |
2023-08-14 |
Not clear |
| Jun-Hui Yuan, Yujiro Higuchi, Akihiro Hashiguchi, Masahiro Ando, Akiko Yoshimura, Tomonori Nakamura, Yusuke Sakiyama, Hiroshi Takashim. Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study. Journal of neurology. 2022-07-30. PMID:35907044. |
non-dystrophic myotonias (ndm) are rare skeletal muscle channelopathies, mainly linked to two voltage-gated ion channel genes, clcn1 and scn4a. |
2022-07-30 |
2023-08-14 |
Not clear |
| Jun-Hui Yuan, Yujiro Higuchi, Akihiro Hashiguchi, Masahiro Ando, Akiko Yoshimura, Tomonori Nakamura, Yusuke Sakiyama, Hiroshi Takashim. Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study. Journal of neurology. 2022-07-30. PMID:35907044. |
compared to patients with clcn1 variants, patients harboring scn4a variants showed younger onset age (5.64\xe2\x80\x89\xc2\xb1\xe2\x80\x894.70\xc2\xa0years vs. 9.23\xe2\x80\x89\xc2\xb1\xe2\x80\x895.21\xc2\xa0years), fewer warm-up phenomenon, but more paramyotonia, hyperckemia, transient muscle weakness, and cold-induced myotonia. |
2022-07-30 |
2023-08-14 |
Not clear |
| Yan-Xin Meng, Mei Yu, Chunmiao Liu, Haijuan Zhang, Yuxiu Yang, Jing Zhan. Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people. Medicine. vol 101. issue 29. 2022-07-22. PMID:35866763. |
sequence clcn1 and scn4a genes in patients with nondystrophic myotonia in chinese people. |
2022-07-22 |
2023-08-14 |
Not clear |
| Sara Locci, Rosanna Cardani, Paola Brunori, Sabrina Lucchiari, Giacomo P Comi, Antonio Federico, Nicola De Stefano, Giovanni Meola, Andrea Mignarr. Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 42. issue 12. 2021-12-06. PMID:34386887. |
co-occurrence of dmpk expansion and clcn1 mutation in a patient with myotonia. |
2021-12-06 |
2023-08-13 |
Not clear |
| Lucas Santos Souza, Priscila Calyjur, Antonio Fernando Ribeiro, Juliana Gurgel-Giannetti, Rita Cassia Mingroni Pavanello, Mayana Zatz, Mariz Vainzo. Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita. Journal of molecular neuroscience : MN. vol 71. issue 11. 2021-11-12. PMID:33464536. |
two allelic forms are recognized, depending on the phenotype and the inheritance pattern: the autosomal dominant thomsen disease with milder symptoms and the autosomal recessive becker disorder with a severe phenotype.\xc2\xa0before the recent advances of molecular testing, the diagnosis and genetic counseling of families was a challenge due to the large number of mutations in the clcn1 gene, found both in homozygous or in heterozygous state.\xc2\xa0here, we studied a consanguineous family in which three members presented a variable phenotype of myotonia, associated to a combination of three different mutations in the clcn1 gene. |
2021-11-12 |
2023-08-13 |
Not clear |
| Daiane de Jesus Rodrigues, Adilson Donizeti Damasceno, C\\xc3\\xa9sar Erineudo Tavares de Ara\\xc3\\xbajo, Sandra Regina Torelli, Luine Gabriela Hil\\xc3\\xa1rio Fonseca, Diego Jos\\xc3\\xa9 Zanzarini Delfiol, Jos\\xc3\\xa9 Paes de Oliveira-Filho, Jo\\xc3\\xa3o Pessoa Ara\\xc3\\xbajo-J\\xc3\\xbanior, Alexandre Secorun Borge. Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene. Neuromuscular disorders : NMD. vol 30. issue 12. 2021-10-14. PMID:33246886. |
hereditary myotonia in american bulldog associated with a novel frameshift mutation in the clcn1 gene. |
2021-10-14 |
2023-08-13 |
dog |
| Daiane de Jesus Rodrigues, Adilson Donizeti Damasceno, C\\xc3\\xa9sar Erineudo Tavares de Ara\\xc3\\xbajo, Sandra Regina Torelli, Luine Gabriela Hil\\xc3\\xa1rio Fonseca, Diego Jos\\xc3\\xa9 Zanzarini Delfiol, Jos\\xc3\\xa9 Paes de Oliveira-Filho, Jo\\xc3\\xa3o Pessoa Ara\\xc3\\xbajo-J\\xc3\\xbanior, Alexandre Secorun Borge. Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene. Neuromuscular disorders : NMD. vol 30. issue 12. 2021-10-14. PMID:33246886. |
in this study, an affected american bulldog with hm clinically characterized by muscle hypertrophy, myotonic discharges, and nondystrophic myotonia with a "warm-up" phenomenon was evaluated, and the candidate canine clcn1 gene was sequenced. |
2021-10-14 |
2023-08-13 |
dog |
| Nezir \\xc3\\x96zg\\xc3\\xbcn, Hasan Ta\\xc5\\x9fl\\xc4\\xb1der. Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene. The Turkish journal of pediatrics. vol 62. issue 3. 2021-08-19. PMID:32558419. |
congenital myotonia: a review of twenty cases and a new splice-site mutation in the clcn1 gene. |
2021-08-19 |
2023-08-13 |
Not clear |
| Nezir \\xc3\\x96zg\\xc3\\xbcn, Hasan Ta\\xc5\\x9fl\\xc4\\xb1der. Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene. The Turkish journal of pediatrics. vol 62. issue 3. 2021-08-19. PMID:32558419. |
congenital myotonia (cm) is a disease caused by mutations in the skeletal muscle chloride channel gene (clcn1). |
2021-08-19 |
2023-08-13 |
Not clear |
| Ramesh S Yadava, Qing Yu, Mahua Mandal, Frank Rigo, C Frank Bennett, Mani S Mahadeva. Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3'UTR RNA. Human molecular genetics. vol 29. issue 9. 2021-08-12. PMID:32242217. |
the treatment reduced myotonia and this correlated with increased clcn1 expression. |
2021-08-12 |
2023-08-13 |
mouse |
| Daniela Avila-Smirnow, Carmen Paz Vargas Leal, Mar\\xc3\\xada de Los Angeles Beyt\\xc3\\xada Reyes, Roc\\xc3\\xado Cort\\xc3\\xa9s Zepeda, Ra\\xc3\\xbal G Escobar, Karin Kleinsteuber Saa, Marcela Lagos Lucero, Mar\\xc3\\xada de Los Angeles Avaria Benapres, Oslando Padilla P\\xc3\\xa9rez, Juan Carlos Casar Leturia, Cecilia Mellado Sagredo, Damien Sternber. Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant. Neuromuscular disorders : NMD. vol 30. issue 7. 2021-08-11. PMID:32593548. |
non-dystrophic myotonias are a group of rare neuromuscular diseases linked to scn4a or clcn1. |
2021-08-11 |
2023-08-13 |
Not clear |
| Ryogen Sasaki, Maki Nakaza, Mitsuru Furuta, Haruo Fujino, Tomoya Kubota, Masanori P Takahash. Mutation spectrum and health status in skeletal muscle channelopathies in Japan. Neuromuscular disorders : NMD. vol 30. issue 7. 2021-08-11. PMID:32660787. |
of 105 unrelated pedigrees genetically confirmed, 66 pedigrees were non-dystrophic myotonias [clcn1 (n\xe2\x80\xaf=\xe2\x80\xaf30) and scn4a (n\xe2\x80\xaf=\xe2\x80\xaf36)], 11 were hyperkalemic periodic paralysis (scn4a), and 28 were hypokalemic periodic paralysis [cacna1s (n\xe2\x80\xaf=\xe2\x80\xaf16) and scn4a (n\xe2\x80\xaf=\xe2\x80\xaf12)]. |
2021-08-11 |
2023-08-13 |
Not clear |
| Filipa Sampaio, S\\xc3\\xa9rgia Soares, Sara Pereira, Jos\\xc3\\xa9 Alberto Lemos, \\xc3\\x81gata Mot. Sodium Channel Myotonia and a Novel Gly701Asp Mutation in the SCN4A Gene: From an Ophthalmological Symptom to a Familial Disease. Neuro-ophthalmology (Aeolus Press). vol 45. issue 1. 2021-07-25. PMID:33762787. |
the child and family members underwent genetic testing, which was negative for clcn1 mutations but was positive for a novel heterozygotic gly701asp mutation in the scn4a gene, compatible with sodium channel myotonia. |
2021-07-25 |
2023-08-13 |
Not clear |