Results 171 to 180 of about 5,273 (196)

The 2025 Oligo Meeting in Budapest: Highlights of the 21^st annual meeting of the oligonucleotide therapeutics society. [PDF]

Mol Ther Nucleic Acids
Godinho BMDC, Guo S.
europepmc   +1 more source

Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study. [PDF]

Genes (Basel)
Tozkir H, Asikovali S, Bozgeyik E, Gurbuz G.   +3 more
europepmc   +1 more source

Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria. [PDF]

Int J Mol Sci
Noguchi A, Tezuka T, Okuda H, Kobayashi H, Harada KH, Yoshida T, Akioka S, Wada K, Takeya A, Kabata-Murasawa R, Kondo D, Ishikawa K, Asano T, Fujiwara M, Hishikawa N, Mizukami T, Hitomi T, Youssefian S, Nagai Y, Tanaka M, Eto K, Shiraishi H, Amaya F, Koizumi A, Takahashi T.   +24 more
europepmc   +1 more source

Gene expression signature of neuropathic pain: Unveiling compassion through pain genetics and genome-wide mRNA profiles. [PDF]

Indian J Anaesth
Saxena AK, Choudhary S, Chilkote G.
europepmc   +1 more source

Gene Therapy and Epigenetic Modulation in Chronic Pain: A Future Without Opioids? [PDF]

Cureus
Idahor CO, Okorie MA, Mokobia S, Erhuanga P, Ogbonna N, Ogunfuwa O, Etoroma OM, Abhulimen IJ, Chinedu E.   +8 more
europepmc   +1 more source

Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic. [PDF]

Epilepsia Open
Hussein Y, Weisblum-Neuman H, Ben Zeev B, Stern S.   +3 more
europepmc   +1 more source

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Autonomic dysfunction in SCN9A-associated primary erythromelalgia

Clinical Autonomic Research, 2012
Primary erythromelalgia (EM) is an autosomal dominant disorder caused by mutations of SCN9A. It is clinically characterized by reddish discoloration and episodic burning sensation of distal extremities triggered by warmth. We report a 49-year-old male with primary EM caused by SCN9A mutation (p.F216S), in whom an autonomic reflex screening test ...
Min-Kyeong, Kim, Ji-Won, Yuk, Hyang-Sook, Kim, Ki-Jong, Park, Dae-Seong, Kim   +4 more
openaire   +2 more sources

Two novel SCN9A mutations causing insensitivity to pain

Pain, 2009
The sensation of pain is important and there may be serious consequences if it is missing. Recently, the genetic basis for a channelopathy characterised by a congenital inability to experience pain has been described and channelopathy-associated insensitivity to pain has been proposed as a suitable name for this condition.
K B, Nilsen, A K, Nicholas, C G, Woods, S I, Mellgren, M, Nebuchennykh, J, Aasly   +5 more
openaire   +2 more sources

Association analysis of SCN9A gene variants with borderline personality disorder

Journal of Psychiatric Research, 2008
Borderline personality disorder (BPD) is a serious psychiatric disorder affecting about 1-2% of the general population. Key features of BPD are emotional instability, strong impulsivity, repeated self-injurious behavior (SIB) and dissociation. In the etiology of BPD and its predominant symptoms, genetic factors have been suggested.
André, Tadić, Omur, Baskaya, Anja, Victor, Klaus, Lieb, Wolfgang, Höppner, Norbert, Dahmen   +5 more
openaire   +2 more sources