Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene [PDF]
Frontiers in Physiology, 2015 Episodic ataxia type 1 (EA1) is an autosomal dominant K+ channelopathy which manifests with short attacks of cerebellar ataxia and dysarthria, and may also show interictal myokymia.
Maria Cristina D'Adamo +23 more
doaj +5 more sources
A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17 [PDF]
, 2015 Closed breeding populations in the dog in conjunction with advances in gene mapping and sequencing techniques facilitate mapping of autosomal recessive diseases and identification of novel disease-causing variants, often using unorthodox experimental ...
A McKenna +27 more
core +16 more sources
Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia
Journal of Veterinary Internal Medicine, 2023 Background KCNJ10 and CAPN1 variants cause “spinocerebellar” ataxia in dogs, but their association with generalized myokymia and neuromyotonia remains unclear.
An Vanhaesebrouck +10 more
doaj +1 more source
The Turkish Journal of Pediatrics, 2020 Background and Objectives. There are controversial results in the literature regarding urinary electrolytes, especially potassium, in enuretic children.
Ayşe Balat +7 more
doaj +1 more source
Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss [PDF]
PeerJ, 2014 Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of sensorineural hearing loss disorders that typically result from biallelic mutations of the SLC26A4 gene. Although PDS and DFNB4 are recessively inherited, sequencing of the coding regions
Lynn M. Pique +5 more
doaj +2 more sources
Common variants of KCNJ10 are associated with susceptibility and anti-epileptic drug resistance in Chinese genetic generalized epilepsies. [PDF]
PLoS ONE, 2015 To explore genetic mechanism of genetic generalized epilepsies (GGEs) is challenging because of their complex heritance pattern and genetic heterogeneity.
Yong Guo +9 more
doaj +1 more source
Cell Reports, 2023 Summary: The regulation of translation in astrocytes, the main glial cells in the brain, remains poorly characterized. We developed a high-throughput proteomics screen for polysome-associated proteins in astrocytes and focused on ribosomal protein ...
Marc Oudart +13 more
doaj +1 more source
KCNK5 channels mostly expressed in cochlear outer sulcus cells are indispensable for hearing [PDF]
, 2015 International audienceIn the cochlea, K þ is essential for mechano-electrical transduction. Here, we explore cochlear structure and function in mice lacking K þ channels of the two-pore domain family.
Barhanin, Jacques +5 more
core +8 more sources
Disease Models & Mechanisms, 2013 SUMMARY Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and disabling multi-organ disorder consisting of epilepsy, ataxia, sensorineural deafness and ...
Fahad Mahmood +8 more
doaj +1 more source
Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant
Journal of Veterinary Internal Medicine, 2023 Background In Belgian Malinois, a KCNJ10 variant causes progressive spinocerebellar degeneration. Hypothesis/Objectives Describe the clinical, diagnostic, pathological and genetic features of spinocerebellar degeneration in the Bouvier des Ardennes breed.
Kimberley Stee +7 more
doaj +1 more source