Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.310 GeneticVariation phenotype BEFREE Dominant mutations in ATP1A1, encoding the alpha-1 isoform of the Na<sup>+</sup> /K<sup>+</sup> -ATPase, have been recently reported to cause an axonal to intermediate type of Charcot-Marie-Tooth disease (ie, CMT2DD) and a syndrome with hypomagnesemia, intractable seizures and severe intellectual disability. 31705535 2020
CUI: C0036572
Disease: Seizures
Seizures 		0.310 Biomarker phenotype GENOMICS_ENGLAND Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. 30388404 2018