PVALB, parvalbumin, 5816

N. diseases: 148; N. variants: 0
Disease: Infantile Severe Myoclonic Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.030 Biomarker disease BEFREE GABAergic interneurons expressing parvalbumin (PV-INs) and somatostatin (SST-INs) exhibit impaired excitability in DS (<i>Scn1a</i><sup>+/-</sup>) mice. 31282864 2019
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.030 Biomarker disease BEFREE The voltage-gated sodium channel, Na<sub>v</sub>1.1, is predominantly expressed in parvalbumin-positive fast spiking interneurons and has been genetically linked to Dravet syndrome. 30704812 2019
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.030 Biomarker disease BEFREE Prior studies in mouse models of Dravet syndrome (<i>Scn1a</i><sup>+/-</sup> mice) indicate that, in cerebral cortex, Nav1.1 is predominantly expressed in GABAergic interneurons, in particular in parvalbumin-positive fast-spiking basket cell interneurons (PVINs). 30104343 2018