Results 51 to 60 of about 2,332 (142)

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan

Frontiers in Neurology, 2023
IntroductionGenetic factors are recognized as the major reason for patients with periodic paralysis. The goal of this study was to determine the genetic causes of periodic paralysis in Japan.MethodsWe obtained a Japanese nationwide case series of 119 ...
Jun-Hui Yuan, Yujiro Higuchi, Akihiro Hashiguchi, Masahiro Ando, Akiko Yoshimura, Tomonori Nakamura, Yu Hiramatsu, Yusuke Sakiyama, Hiroshi Takashima   +8 more
doaj   +1 more source

Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We have identified 4 pathogenic/likely pathogenic changes and 2 variants of uncertain significance, 3 of which were novel. The identification of disease‐causing variants in the CRYAA, MYH9, RP2, and CLNC1 genes allowed us to establish an accurate genetic diagnosis of inherited cataract and to describe overlapping clinical phenotypes.
Kristiyana Vitanova, Kunka Kamenarova, Nevyana Veleva‐Krasteva, Kalina Mihova, Yoanna Kaneva, Reni Tzveova, Martin Georgiev, Delyan Georgiev, Ivanka Dimova, Alexander Oscar, Radka Kaneva   +10 more
wiley   +1 more source

New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases

Frontiers in Pharmacology, 2021
The voltage-gated sodium channel Nav1.4 is a major actor in the excitability of skeletal myofibers, driving the muscle force in response to nerve stimulation.
Sophie Nicole, Sophie Nicole, Philippe Lory, Philippe Lory   +3 more
doaj   +1 more source

Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis.

, 2003
BACKGROUND: The authors reported a mutation, P1158S, of the human skeletal muscle sodium channel gene (SCN4A) in a family with cold-induced hypokalemic periodic paralysis (hypoKPP) and myotonia. OBJECTIVE: To identify mechanisms of temperature dependency
Sugiura, Y, Noble, Penelope, Li, L, Makita, N, Kumagai, Y, Yamamoto, T, Soeda, T, Noble, PJ, Kimura, J   +8 more
core   +1 more source

Hypokalemia with Recurrent Flaccid Paralysis

Indian Journal of Kidney Diseases, 2022
Acute flaccid paralysis is a condition which is attributable to many etiologies. When a patient presents with recurrent acute flaccid paralysis, hypokalemic or hyerkalemic periodic paralysis should be considered especially if similar symptoms are seen in
Poornima Tadkal, Vishwanath Siddini, Kishore Babu, T Chakravarthy   +3 more
doaj   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis

Frontiers in Neurology, 2022
Non-dystrophic myotonias (NDM) encompass chloride and sodium channelopathy. Mutations in CLCN1 lead to either the autosomal dominant form or the recessive form of myotonia congenita (MC).
Serena Pagliarani, Giovanni Meola, Giovanni Meola, Melania Filareti, Giacomo Pietro Comi, Sabrina Lucchiari   +5 more
doaj   +1 more source

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy [PDF]

, 2016
See Cannon (doi:10.1093/brain/awv400) for a scientific commentary on this article.Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and
Zhang, L.H., Witting, N., Suetterlin, K., Morgan, J.E., Slordahl, A., Lokken, N., Lewis, S., Davis, M.R., Muntoni, F., Sframeli, M., Oates, E.C., Vissing, J., Gabbett, M.T., Phadke, R., Ye, X.C., Mannikko, R., Laing, N.G., Zaharieva, I.T., Ravenscroft, G., Matthews, E., Hanna, M.G., Hartley, L., Sewry, C.A., Ballegaard, M., Kamsteeg, E.J., Blom, E., Krarup, C., Halvorsen, H., Ruben, P., D'Argenzio, L., Werlauff, U., Abdelsayed, M., Feng, L., Rasmussen, M., Vallance, H., Hendson, G., Thor, M.G., Sarkozy, A., Pitt, M., Karnebeek, C.D. van   +39 more
core   +2 more sources

Integrative Advances in Equine Genomics From Reference Assemblies to Evolutionary History and Key Traits

Evolutionary Applications, Volume 19, Issue 6, June 2026.
ABSTRACT Horses are major domestic animals and cultural symbols that have accompanied humans for millennia. They underpin transport, agriculture, warfare and sport, and also provide a model for studying domestication, complex traits and adaptive evolution.
Ying Lu, Ruoshan Ma, Bo Wang, Jiao Wu, Yuqing Chong, Zhendong Gao, Weidong Deng   +6 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source