E884K (p.Glu884Lys) variant of KCNMA1 (Q12791)
E884K (p.Glu884Lys) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Generalized epilepsy-paroxysmal dyskinesia syndrome. The record also includes published literature.
E884K (p.Glu884Lys) variant details
- p.Glu884Lys
- UniProt VAR 079156
- Pathogenic
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- ClinVar: Pathogenic (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Pathogenic (in PNKD3)
- UniProt: Pathogenic (in PNKD3)
- Cited in: De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay. (PMID 26195193)
- Cited in: Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. (PMID 15937479)