Results 21 to 30 of about 2,332 (142)
To the editors: SCN1A gain-of-function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications. [PDF]
Epilepsia OpenEpilepsia Open, Volume 10, Issue 6, Page 2032-2035, December 2025.
Müller-Wöhrstein P +2 more
europepmc +2 more sources
Biophysical and structural insights into the SCN4A E452K variant linked to myotonia and paramyotonia congenita [PDF]
Scientific ReportsMyotonia and paramyotonia congenita (PC) are rare neuromuscular disorders characterized by muscle stiffness that intensifies in cold environments. These disorders are associated with variants in the SCN4A gene, that encodes the alpha subunit of the ...
Quentin Plumereau +3 more
doaj +2 more sources
Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family [PDF]
The Turkish Journal of Pediatrics, 2010 Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder characterized by episodic attacks of muscle weakness associated with a decrease in blood potassium levels.
Faruk Incecik +3 more
doaj +5 more sources
Frontiers in Genetics, 2022 The SCN family as the encoded gens of sodium channels has been proven to participate in development of cancers including hepatocellular carcinoma (HCC), but the prognostic value of the SCN family is unclear.
Yan Yan +9 more
doaj +1 more source
Familial hyperkalemic periodic paralysis caused by a mutation in the sodium channel gene [PDF]
Korean Journal of Pediatrics, 2011 Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia.
Ji-Yeon Han, June-Bum Kim
doaj +1 more source
JCRPE, 2021 Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females ...
Tuğba Kontbay, İhsan Turan
doaj +1 more source
Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations [PDF]
Korean Journal of Pediatrics, 2011 Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene.
Hunmin Kim +3 more
doaj +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2022 Objective To report a family of hypokalaemic periodic paralysis (HypoPP) with muscle atrophy due to SCN4A gene R672G mutation. The clinical, pathological and MRI characteristics of HypoPP were summarized combining literatures review.
XIA Yu +4 more
doaj +1 more source
SCN4A is a differentially expressed gene in brain metastatic human breast cancer.
, 2023 Metastasis to the brain occurs in a significant fraction of patients with breast cancer (1-3). We mined published RNA-sequencing and microarray data (4, 5) to compare primary and metastatic tumor transcriptomes for the discovery of genes associated with ...
Shahan Mamoor
core +1 more source
Genomics Data, 2015 Paramyotonia congenita (PC) is a rare autosomal dominant neuromuscular disorder characterized by juvenile onset and development of cold-induced myotonia after repeated activities.
Jinxin Li +7 more
doaj +1 more source