Results 151 to 160 of about 1,941 (169)

The association of RS34643859 gene KCNS1, RS12804550 gene SCN4B, RS4514993 gene SCN11A with the sudden cardiac death

Molekulyarnaya Meditsina (Molecular medicine), 2021
A. Ivanova, E. S. Melnikova, A. A. Gurazheva, S. Malutina, I. A. Rodina, O. V. Khamovich, V. P. Novoselov, V. Maksimov   +7 more
semanticscholar   +2 more sources

SCN11A variant as possible pain generator in sensory axonal neuropathy

Neurological Sciences, 2019
F. Ginanneschi, A. Rubegni, F. Moro, N. Volpi, F. Santorelli, A. Rossi   +5 more
semanticscholar   +3 more sources

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

Nature Genetics, 2013
The sensation of pain protects the body from serious injury. Using exome sequencing, we identified a specific de novo missense mutation in SCN11A in individuals with the congenital inability to experience pain who suffer from recurrent tissue damage and severe mutilations.
E. Leipold, L. Liebmann, G. Korenke, Theresa Heinrich, Sebastian Giesselmann, J. Baets, M. Ebbinghaus, R. O. Goral, T. Stödberg, J. Hennings, M. Bergmann, J. Altmüller, H. Thiele, Andrea Wetzel, P. Nürnberg, V. Timmerman, P. de Jonghe, R. Blum, H. Schaible, J. Weis, S. Heinemann, C. Hübner, I. Kurth   +22 more
semanticscholar   +5 more sources

Neue SCN11A-Variante p.Tyr66Ser: Klinisch-funktionelle Pathogenitätsdiskussion im Kontext von Small Fiber Dysfunktion

Nervenheilkunde
NW M van den Braak, S. Kuehs, G. Peschke, B. Namer, A. Lischka, K. Eggermann, C. Dumke, VS B Eswaran, S. Nikolin, J. Weis, J. Schulz, A. Lampert, I. Kurth, R. Rolke, E. Leipold, M. Dohrn   +15 more
semanticscholar   +2 more sources

Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor

Journal of Human Genetics, 2017
Familial episodic pain is a rare autosomal-dominant disorder characterized by recurrent attacks of pain. The pathogenesis of familial episodic pain is not very clear so far. Essential tremor is the most common movement disorder, but the identification of essential tremor genes has remained elusive. We studied a four-generation Chinese family with early-
X. Leng, X. Qi, Yong Zhou, Yu-Ping Wang
semanticscholar   +3 more sources

Arg225Cys Mutation in SCN11A Causes Nociceptive Pain without Detectable Peripheral Nerve Pathology (S42.006)

Neurology, 2019
Ryan Castoro, Jun Li, Christopher Lee, Lan Zhou   +3 more
semanticscholar   +2 more sources

Faculty Opinions recommendation of A de novo gain-of-function mutation in SCN11A causes loss of pain perception.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2013
D. Triggle
semanticscholar   +5 more sources

Familial Episodic Pain Syndrome: A Japanese Family Harboring the Novel Variant c.2431C>T (p.Leu811Phe) in SCN11A

Biochemical Genetics
Familial episodic pain syndrome (FEPS) is an autosomal-dominant inherited disorder characterized by paroxysmal pain episodes. FEPS appears in early childhood, gradually disappearing with age, and pain episodes can be triggered by fatigue, bad weather, and cold temperatures.
Chioko Nagao, Hiroko Okuda, G. Bekker, A. Noguchi, Tsutomu Takahashi, Akio Koizumi, S. Youssefian, Tohru Tezuka, Shinji Akioka   +8 more
semanticscholar   +3 more sources

Episodic Pain Syndrome Associated with a Novel Heterozygous Gain-of-Function SCN11A Missense Mutation

Neuropediatrics, 2019
K. Brockmann, Renate Brackmann, A. Abicht, I. Kurth, Jianying Huang, S. Waxman, S. Dib-Hajj   +6 more
semanticscholar   +2 more sources

Sensory Autonomic Neuropathy with Analgesia and Gastroenterological Symptoms due to a Mutation in the SCN11A Gene

Neuropediatrics, 2014
G. Korenke, I. Marquardt, E. Leiphold, M. Bergmann, I. Kurth   +4 more
semanticscholar   +2 more sources