Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.150 GeneticVariation phenotype BEFREE These results indicate that the Q321R mutation alters Shank3 protein stability, neuronal excitability, repetitive and anxiety-like behavior, EEG patterns, and seizure susceptibility in mice. 31275112 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.150 Biomarker phenotype BEFREE Of the 15 Shank3 TG mice monitored, two exhibited spontaneous tonic-clonic seizures, and one died immediately after the seizure event. 30305163 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.150 AlteredExpression phenotype BEFREE Recently, accumulating evidence has demonstrated that overexpression of SHANK3 could induce seizures in vivo. 27592227 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.150 GeneticVariation phenotype BEFREE All individuals with a mutation in SHANK3 should be evaluated for epilepsy due to the high prevalence of seizures in this population. 27554343 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.150 Biomarker phenotype BEFREE Here we report that Shank3 transgenic mice modelling a human SHANK3 duplication exhibit manic-like behaviour and seizures consistent with synaptic excitatory/inhibitory imbalance. 24153177 2013
CUI: C0036572
Disease: Seizures
Seizures 		0.150 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.150 GeneticVariation phenotype CLINVAR