Results 11 to 20 of about 4,664 (202)

SCN9A should not be considered an epilepsy gene; Refuting a gene-disease association. [PDF]

Epilepsia
AbstractObjectiveThe SCN9A gene is primarily expressed in nociceptive pathways within the peripheral nervous system, and pathogenic variants are associated with human pain disorders. In recent years, several studies have proposed SCN9A as a monogenic cause of epilepsy.
Ghanty I, Perez-Palma E, Villaman C, Stobo D, Symonds J, Zuberi S, Lal D, Brunklaus A.   +7 more
europepmc   +3 more sources

A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia [PDF]

BMC Musculoskeletal Disorders, 2012
Background A consistent line of investigation suggests that autonomic nervous system dysfunction may explain the multi-system features of fibromyalgia (FM); and that FM is a sympathetically maintained neuropathic pain syndrome.
Vargas-Alarcon Gilberto, Alvarez-Leon Edith, Fragoso Jose-Manuel, Vargas Angelica, Martinez Aline, Vallejo Maite, Martinez-Lavin Manuel   +6 more
doaj   +3 more sources

Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain [PDF]

Frontiers in Genetics
We report an index patient with complete insensitivity to pain and a history of painless fractures, joint hypermobility, and behavioral problems. The index patient descends from a family with notable cases among his maternal relatives, including his aunt
Aïcha Boughalem, Viorica Ciorna-Monferrato, Natacha Sloboda, Amélie Guegan, François Page, Sophie Zimmer, Marion Benazra, Pascale Kleinfinger, Laurence Lohmann, Mylène Valduga, Aline Receveur, Fernando Martin, Detlef Trost   +12 more
doaj   +2 more sources

Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family. [PDF]

Neurol Sci, 2020
AbstractGeneralized epilepsy with febrile seizures plus (GEFS+) is a complex familial epilepsy syndrome. It is mainly caused by mutations in SCN1A gene, encoding type 1 voltage-gated sodium channel α-subunit (NaV1.1), and GABRA1 gene, encoding the α1 subunit of the γ-aminobutyric acid type A (GABAA) receptor, while seldom related with SCN9A gene ...
Zhang T, Chen M, Zhu A, Zhang X, Fang T.
europepmc   +4 more sources

Integrated bioinformatics screening and experimental validation: construction of a LUAD prediction model based on Treg-related genes [PDF]

PeerJ
Background The prognosis of lung adenocarcinoma (LUAD) is poor, and clinical treatment mainly comprises a combination of traditional therapy and immunotherapy.
Tian Zhao, Yan Yao, Yan Sun, Qingliang Lv, Changgang Sun, Yining Cheng, Chundi Gao, Jing Zhuang   +7 more
doaj   +3 more sources

Deciphering the Structural and Functional Effects of the R1150W Non-Synonymous Variant in SCN9A Linked to Altered Pain Perception [PDF]

NeuroSci
The SCN9A gene, a critical regulator of pain perception, encodes the voltage-gated sodium channel Nav1.7, a key mediator of pain signal transmission.
Faisal A. Al-Allaf, Zainularifeen Abduljaleel, Mohammad Athar   +2 more
doaj   +2 more sources

A nonsense mutation in the SCN9A gene in congenital insensitivity to pain. [PDF]

Dermatology, 2010
Congenital insensitivity to pain (CIP) (OMIM 243000) is a rare autosomal-recessive disorder. Clinically, CIP is characterized by insensitivity to all modalities of pain except neuropathic pain, and recurrent injuries frequently go unnoticed. CIP is caused by mutations in the SCN9A gene encoding for the Na1.7 channel.We analyzed the DNA from members of ...
Kurban M, Wajid M, Shimomura Y, Christiano AM.   +3 more
europepmc   +5 more sources

Primary erythromelalgia caused by SCN9A gene mutation: A case report and literature review

Pifu-xingbing zhenliaoxue zazhi
Objective To report a case of hereditary skin disease mainly characterized by burning pain of the lower legs and feet, accompanied by flush and elevated skin temperature, and to identify the pathogenic genes and mutation sites in order to explore ...
Cuicui SUN, Sai YANG, Hang ZHENG, Yunsheng LIANG, Zhimiao LIN, Yongfeng CHEN   +5 more
doaj   +2 more sources

Post-procedure sedation and apnea linked to ion channel variant: a case report on dexmedetomidine-propofol interaction [PDF]

Frontiers in Pharmacology
We report a case of post-awakening recurrent episodes of spontaneous re-sedation and apnea with severe desaturation after procedural sedation with dexmedetomidine and propofol in a leukemic adolescent with an ionic channel variant.
Gabriele Stocco, Gabriele Stocco, Anna Galletti, Marianna Lucafò, Nagua Giurici, Debora Curci, Sara Solidoro, Valentina Kiren, Anna Monica Bianco, Egidio Barbi, Egidio Barbi, Pio D’Adamo, Pio D’Adamo   +12 more
doaj   +2 more sources

The para^bss1 Drosophila melanogaster as Model for Chronic Nociception: Insights Into Cannabidiol Analgesic Effects. [PDF]

Eur J Pain
ABSTRACT Background Chronic pain, which is often unrelated to ongoing injury, is poorly understood and difficult to treat. Genetic studies have identified voltage‐gated sodium (Nav) channels, particularly gain‐of‐function mutations such as L858F and R1150W in human NaV1.7, as involved in the development of chronic pain. Methods A chronic pain model was
Malta SM, Correia LIV, Marquez AS, Bernardes LMM, Howland JG, Mendes-Silva AP, Espíndola FS, Ueira-Vieira C.   +7 more
europepmc   +2 more sources