rs1162306056, KCNQ3

N. diseases: 5
Disease: Encephalopathies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
0.010 GeneticVariation BEFREE The aim of the present work has been to investigate the molecular mechanisms of channel dysfunction caused by voltage-sensing domain mutations in Kv7.2 (R144Q, R201C, and R201H) or Kv7.3 (R230C) recently found in patients with epileptic encephalopathies and/or intellectual disability. 25740509 2015