Disease: Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 GeneticVariation disease CLINVAR Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204 2020
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 GeneticVariation disease BEFREE The penetrance of epilepsy within the families was highest for patients carrying mutation in the CACNA1A gene (60%), and lower in those having SCN1A (33.3%) and ATP1A2 (30.9%) mutations. 28058944 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 GeneticVariation disease BEFREE It demonstrates the spectrum of paroxysmal neurological events that can arise as a result of ATP1A2 variants, with unique features overlapping alternating hemiplegia of childhood, hemiplegic migraine, and epilepsy. 28811059 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 GeneticVariation disease BEFREE A genetic link between these two diseases is particularly evident in familial hemiplegic migraine: mutations of ATP1A2, SCN1A and CACNA1A genes, identified in this disease, have also been involved in different types of epilepsy and febrile seizures. 28527083 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 GeneticVariation disease BEFREE The present study provides further evidence on the involvement of ATP1A2 mutations in both migraine and epilepsy, underlying the relevance of genetic analysis in families with a comorbidity of both disorders. 23918834 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 GeneticVariation disease BEFREE The clinical spectrum associated with ATP1A2 mutations is expanding and includes familial hemiplegic migraine, alternating hemiplegia of childhood, and epilepsy.We have identified a novel c.1766T>C. 24097848 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 Biomarker disease BEFREE The functional data and clinical evidence suggest that in FHM2 migraine and epilepsy may originate from the same pathogenic mechanisms associated with genetically determined alterations of ion channels and pumps. 23838748 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 GeneticVariation disease BEFREE Epilepsy as part of the phenotype associated with ATP1A2 mutations. 18028407 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 GeneticVariation disease LHGDN The novel mutation identified confirms the role of FHM2 gene in forms of hemiplegic migraine associated with epilepsy with both familial and sporadic occurrence, and expands the spectrum of mutations related to these forms of the disease. 18644608 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 GeneticVariation disease BEFREE The novel mutation identified confirms the role of FHM2 gene in forms of hemiplegic migraine associated with epilepsy with both familial and sporadic occurrence, and expands the spectrum of mutations related to these forms of the disease. 18644608 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 GeneticVariation disease BEFREE Severe attacks of familial hemiplegic migraine, childhood epilepsy and ATP1A2 mutation. 18498390 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 GeneticVariation disease LHGDN Epilepsy as part of the phenotype associated with ATP1A2 mutations. 18028407 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.200 Biomarker disease BEFREE Additional cerebellar ataxia and (childhood) epilepsy can occur in FHM1 and FHM2. 15907261 2005